Global Variome shared LOVD
SCN4A (sodium channel, voltage-gated, type IV, alph...)
LOVD v.3.0 Build 27 [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Global Variome, with Curator vacancy
View all genes
View SCN4A gene homepage
View graphs about the SCN4A gene database
Create a new gene entry
View all transcripts
View all transcripts of gene SCN4A
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene SCN4A
View all variants in gene SCN4A
Full data view for gene SCN4A
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene SCN4A
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene SCN4A
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene SCN4A
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Unique variants in the SCN4A gene
The variants shown are described using the NM_000334.4 transcript reference sequence.
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Reported
: The number of times this variant has been reported in the database.
Exon
: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = from intron 2 to intron 7, 8i_9 = intron 8/exon 9 boundary, _1 = 5' to exon 1, 18_ = 3' of exon 18, _1_18_ = encompassing the entire 18-exon gene
DNA change (cDNA)
: description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup. For deletions/duplications extending beyond the reference transcript resp. {0}/{2} is used to replace del/dup. Extent of the deletion/duplication should be specified using the genomic description (g.). "-" indicates the variant described on genomic level does not affect the coding DNA reference sequence.
RNA change
: description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Classification method
: The method used for the clinical classification of this variant.
All options:
ACMG
ACGS
EAHAD-CFDB
ENIGMA
IARC
InSiGHT
kConFab
other
Clinical classification
: Clinical classification of variant, preferably based on standardised criteria (e.g. ACMG), directed on the clinical consequences as published/submitted, indicated using an enriched system including inheritance: e.g. pathogenic, pathogenic (dominant), pathogenic (recessive), pathogenic (!), pathogenic (maternal), pathogenic (paternal). Standard inheritance is covered by dominant/recessive, imprinting by maternal/paternal. A '!' warns for exceptional circumstances to be explained in the 'Remarks' field (low penetrance, variants pathogenic in heterozygous state only, hypomorphic/hypermorphic variants, protective variants, etc.). Non-disease consequences (e.g. drug metabolism (pharmacogenetics), risk factor, blood group, tasting bitter) are indicated using additions to the benign classification; benign (dominant), benign (recessive), benign (!), etc. The value 'association' is used for variants associated with a phenotype and 'NA' for variants from in vitro/in silico records. NOTE: classification may differ from the opinion of the curator as given in a variant SUMMARY-record or the 'Functional effect concluded'). NOTE: pathogenic/likely pathogenic should go together with "variant (probably) affects function" In ClassFunctional.
All options:
pathogenic
pathogenic (dominant)
pathogenic (recessive)
pathogenic (!)
pathogenic (maternal)
pathogenic (paternal)
likely pathogenic
likely pathogenic (dominant)
likely pathogenic (recessive)
likely pathogenic (!)
likely pathogenic (maternal)
likely pathogenic (paternal)
VUS
VUS (!)
likely benign
likely benign (dominant)
likely benign (recessive)
likely benign (!)
likely benign (maternal)
likely benign (paternal)
benign
benign (dominant)
benign (recessive)
benign (!)
benign (maternal)
benign (paternal)
association
unclassified
NA
DNA change (genomic) (hg19)
: HGVS description of variant at DNA level, based on the genomic (chromosomal) DNA reference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
DNA change (hg38)
: HGVS description of variant at DNA level, based on the hg38 genomic (chromosomal) eference sequence; e.g. g.12345678C>T, g.12345679del, g.12345678_12345890dup
Published as
: listed only when different from "DNA change"; variant as reported originally (e.g. 521delT). Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G)
ISCN
: description of the variant according to ISCN nomenclature
DB-ID
: database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro
Variant remarks
: remarks regarding variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.
Reference
: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"
ClinVar ID
: ID of variant in ClinVar database
dbSNP ID
: the dbSNP ID
Origin
: Origin of variant/record: Germline = in all cells, De novo = in all cells, but not in either parent, Germline/De novo (untested) = in all cells, parents not tested (use only when De novo is likely, e.g. isolated/sporadic cases with dominant disease), Somatic = present in a subset of cells, but not in either parent, Uniparental disomy = from parental disomy (maternal or paternal), CLASSIFICATION record = submitter only sharing variant classification (note another report may share Individual data), SUMMARY record = master summary record from curator (may link to another database), In vitro (cloned) = data resulting from in vitro functional assays, animal model = data from animal model, Artefact = false positive variant call, DUPLICATE record = variant already described on another chromosome (e.g. unbalanced translocation, duplicating transposition, 2nd fusion transcript, etc.)
All options:
Germline
De novo
Germline/De novo (untested)
Somatic
Uniparental disomy
Uniparental disomy, maternal allele
Uniparental disomy, paternal allele
CLASSIFICATION record
SUMMARY record
In vitro (cloned)
In silico
animal model
Artefact
DUPLICATE record
Unknown
Not applicable
Segregation
: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:
? = unknown
yes = segregates with phenotype
no = does not segregate with phenotype
- = not applicable
Frequency
: frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested)
Re-site
: restriction enzyme recognition site created (+) or destroyed (-); e.g. BglII+;BamHI-
VIP
: variant VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.
Methylation
: result of methylation test; GOM (gain of methylation), LOM (loss of methylation), 30% (30% methylated). NOTE: when several tests were done mention the method as well (e.g. MS-PCR 75%)
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
236 entries on 3 pages. Showing entries 1 - 100.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
« First
Prev
1
2
3
Next
Last »
Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
Classification method
Clinical classification
DNA change (genomic) (hg19)
DNA change (hg38)
Published as
ISCN
DB-ID
Variant remarks
Reference
ClinVar ID
dbSNP ID
Origin
Segregation
Frequency
Re-site
VIP
Methylation
Owner
-?/.
1
-
c.92G>T
r.(?)
p.(Arg31Leu)
-
likely benign
g.62050110C>A
g.63972750C>A
SCN4A(NM_000334.4):c.92G>T (p.(Arg31Leu))
-
SCN4A_000218
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
?/.
1
-
c.118C>T
r.(?)
p.(Gln40Ter)
-
VUS
g.62050084G>A
g.63972724G>A
SCN4A(NM_000334.4):c.118C>T (p.?)
-
SCN4A_000166
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
?/.
1
-
c.145G>A
r.(?)
p.(Glu49Lys)
-
VUS
g.62050057C>T
-
SCN4A(NM_000334.4):c.145G>A (p.E49K)
-
SCN4A_000270
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
+/+
1
1
c.201G>C
r.(?)
p.(Arg67Pro)
-
pathogenic
g.62050001C>G
g.63972641C>G
-
-
SCN4A_000024
1 more item
Leiden, unpublished
-
-
Germline
-
-
-
-
-
Vincent Janmaat
-?/.
1
-
c.241G>C
r.(?)
p.(Glu81Gln)
-
likely benign
g.62049961C>G
g.63972601C>G
SCN4A(NM_000334.4):c.241G>C (p.(Glu81Gln))
-
SCN4A_000217
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
-?/.
1
-
c.248T>C
r.(?)
p.(Leu83Pro)
-
likely benign
g.62049954A>G
g.63972594A>G
SCN4A(NM_000334.4):c.248T>C (p.L83P)
-
SCN4A_000165
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
+/.
1
-
c.311G>A
r.(?)
p.(Arg104His)
-
pathogenic (recessive)
g.62049793C>T
g.63972433C>T
-
-
SCN4A_000249
-
PubMed: Zaharieva 2016
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/.
1
-
c.314T>C
r.(?)
p.(Phe105Ser)
-
VUS
g.62049790A>G
g.63972430A>G
SCN4A(NM_000334.4):c.314T>C (p.(Phe105Ser))
-
SCN4A_000216
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
?/.
1
-
c.319G>A
r.(?)
p.(Ala107Thr)
-
VUS
g.62049785C>T
g.63972425C>T
-
-
SCN4A_000182
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-?/., ?/.
4
2
c.355G>A
r.(?)
p.(Val119Ile)
-
likely benign, VUS
g.62049749C>T
g.63972389C>T
SCN4A(NM_000334.4):c.355G>A (p.V119I)
-
SCN4A_000001
PolyPhen-2: benign (PSIC:0.001), VKGL data sharing initiative Nederland
Leiden, unpublished
-
rs41280110
CLASSIFICATION record, Germline
-
-
-
-
-
Andreas Laner
,
Vincent Janmaat
,
VKGL-NL_Utrecht
,
VKGL-NL_Nijmegen
+?/.
1
-
c.364C>T
r.(?)
p.(Arg122Cys)
-
likely pathogenic
g.62049740G>A
g.63972380G>A
-
-
SCN4A_000245
combination of variants not reported
PubMed: Topf 2020
-
-
Germline
-
1/1001 cases
-
-
-
Johan den Dunnen
-/-, -/.
15
2
c.366C>T
r.(=), r.(?)
p.(=), p.(Arg122=), p.(Arg122Arg)
-
benign
g.62049738G>A
g.63972378G>A
-
-
SCN4A_000002
VKGL data sharing initiative Nederland
Leiden, unpublished
-
rs41280108
CLASSIFICATION record, Germline
-
-
-
-
-
Birgit Neitzel
,
Andreas Laner
,
Vincent Janmaat
,
VKGL-NL_Nijmegen
-/., ?/.
3
2i
c.392+25C>T
r.(=), r.(?)
p.(=)
-
benign, VUS
g.62049687G>A
g.63972327G>A
-
-
SCN4A_000053
-
Leiden, unpublished
-
rs141799189
Germline
-
-
-
-
-
Andreas Laner
,
Vincent Janmaat
?/.
1
-
c.392+31G>C
r.(=)
p.(=)
-
VUS
g.62049681C>G
g.63972321C>G
-
-
SCN4A_000119
-
-
-
-
Germline
-
-
-
-
-
Andreas Laner
-?/.
1
-
c.393-6C>A
r.(=)
p.(=)
-
likely benign
g.62049591G>T
g.63972231G>T
SCN4A(NM_000334.4):c.393-6C>A
-
SCN4A_000164
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
1
-
c.403A>C
r.(?)
p.(Met135Leu)
-
likely benign
g.62049575T>G
g.63972215T>G
SCN4A(NM_000334.4):c.403A>C (p.M135L)
-
SCN4A_000234
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
-?/.
1
-
c.404T>C
r.(?)
p.(Met135Thr)
-
likely benign
g.62049574A>G
g.63972214A>G
SCN4A(NM_000334.4):c.404T>C (p.M135T)
-
SCN4A_000163
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
+/.
1
-
c.421A>G
r.(?)
p.(Ile141Val)
-
pathogenic
g.62049557T>C
g.63972197T>C
-
-
SCN4A_000118
-
-
-
-
Germline
-
-
-
-
-
Andreas Laner
?/.
1
-
c.443T>C
r.(?)
p.(Met148Thr)
-
VUS
g.62049535A>G
g.63972175A>G
-
-
SCN4A_000117
mother and son: segregation analysis
-
-
-
Germline
-
-
-
-
-
Andreas Laner
?/.
3
3i
c.483-25C>T
r.(?)
p.(=)
-
VUS
g.62049235G>A
g.63971875G>A
-
-
SCN4A_000003
1 more item
Carle [2006], Leiden, unpublished
-
-
Germline
-
-
-
-
-
Vincent Janmaat
-/.
1
3i
c.483-25T>C
r.(=)
p.(=)
-
benign
g.62049235A>G
g.63971875A>G
-
-
SCN4A_000098
-
-
-
rs9892013
Germline
-
-
-
-
-
Birgit Neitzel
-?/.
1
-
c.483-9C>T
r.(=)
p.(=)
-
likely benign
g.62049219G>A
-
SCN4A(NM_000334.4):c.483-9C>T
-
SCN4A_000269
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
-?/.
2
-
c.483-5C>A
r.spl?
p.?
-
likely benign
g.62049215G>T
-
SCN4A(NM_000334.4):c.483-5C>A (p.?, )
-
SCN4A_000215
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
,
VKGL-NL_Utrecht
?/.
1
-
c.483-5C>G
r.spl?
p.?
-
VUS
g.62049215G>C
-
SCN4A(NM_000334.4):c.483-5C>G
-
SCN4A_000254
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-/., ?/.
2
4
c.489C>G
r.(?)
p.(Thr163=), p.(Thr163Thr)
-
benign, VUS
g.62049204G>C
g.63971844G>C
-
-
SCN4A_000106
unclassified variant, VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Birgit Neitzel
,
VKGL-NL_Nijmegen
+?/.
1
-
c.497G>A
r.(?)
p.(Gly166Glu)
-
likely pathogenic
g.62049196C>T
g.63971836C>T
-
-
SCN4A_000244
combination of variants not reported
PubMed: Topf 2020
-
-
Germline
-
1/1001 cases
-
-
-
Johan den Dunnen
+/.
3
-
c.608T>A
r.(?)
p.(Met203Lys)
-
pathogenic (recessive)
g.62049085A>T
g.63971725A>T
-
-
SCN4A_000248
-
PubMed: Zaharieva 2016
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
?/.
1
-
c.612-35C>G
r.(=)
p.(=)
-
VUS
g.62048648G>C
g.63971288G>C
-
-
SCN4A_000116
-
-
-
-
Germline
-
-
-
-
-
Andreas Laner
+/., +?/.
3
5
c.644T>C
r.(?)
p.(Ile215Thr)
-
likely pathogenic, pathogenic
g.62048581A>G
g.63971221A>G
-
-
SCN4A_000221
-
PubMed: Brugnoni 2022
,
Journal: Brugnoni 2022
-
-
Germline
-
-
-
-
-
Johan den Dunnen
,
Raffaella Brugnoni
+/.
1
-
c.664C>T
r.(?)
p.(Arg222Trp)
-
pathogenic
g.62048561G>A
g.63971201G>A
-
-
SCN4A_000115
-
-
-
-
Germline
-
-
-
-
-
Andreas Laner
+/., +?/.
2
-
c.673C>T
r.(?)
p.(Arg225Trp)
-
likely pathogenic, pathogenic (recessive)
g.62048552G>A
g.63971192G>A
-
-
SCN4A_000181
VKGL data sharing initiative Nederland
PubMed: Zaharieva 2016
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Johan den Dunnen
,
VKGL-NL_Nijmegen
?/.
1
-
c.679C>T
r.(?)
p.(Leu227Phe)
-
VUS
g.62048546G>A
g.63971186G>A
-
-
SCN4A_000213
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
-/-
22
5i
c.703+55C>T
r.(?)
p.(=)
-
benign
g.62048467G>A
g.63971107G>A
-
-
SCN4A_000004
1 more item
Leiden, unpublished, Schoser [2007], Wang [1995]
-
-
Germline
-
-
-
-
-
Vincent Janmaat
-/.
1
5i
c.703+55T>C
r.(=)
p.(=)
-
benign
g.62048467A>G
g.63971107A>G
-
-
SCN4A_000099
-
-
-
rs2302236
Germline
-
-
-
-
-
Birgit Neitzel
?/.
1
6
c.704-95A>G
r.(?)
p.(=)
-
VUS
g.62045810T>C
g.63968450T>C
-
-
SCN4A_000005
-
Leiden, unpublished
-
-
Germline
-
-
-
-
-
Vincent Janmaat
+?/.
1
6
c.716T>G
r.(?)
p.(Ile239Ser)
-
likely pathogenic
g.62045703A>C
g.63968343A>C
-
-
SCN4A_000223
-
-
-
-
Germline
yes
-
-
-
-
Raffaella Brugnoni
+/+
1
6
c.748C>G
r.(?)
p.(Leu250Val)
-
pathogenic
g.62045671G>C
g.63968311G>C
-
-
SCN4A_000006
-
Leiden, unpublished
-
-
Germline
-
-
-
-
-
Vincent Janmaat
+/+
2
6
c.749T>C
r.(?)
p.(Leu250Pro)
-
pathogenic
g.62045670A>G
g.63968310A>G
-
-
SCN4A_000007
-
Leiden, unpublished
-
-
Germline
-
-
-
-
-
Vincent Janmaat
?/.
1
-
c.787G>A
r.(?)
p.(Val263Ile)
ACMG
VUS
g.62045632C>T
-
-
-
SCN4A_000250
ACMG: PM1, PM2, PP3: class 3
-
-
-
Germline
?
-
-
-
-
Andreas Laner
+/+
1
6
c.796C>G
r.(?)
p.(Leu266Val)
-
pathogenic
g.62045623G>C
g.63968263G>C
-
-
SCN4A_000008
-
Leiden, unpublished
-
-
Germline
-
-
-
-
-
Vincent Janmaat
+?/.
1
6
c.825C>A
r.(?)
p.(Asn275Lys)
-
likely pathogenic
g.62045594G>T
g.63968234G>T
-
-
SCN4A_000226
-
-
-
-
Germline
yes
-
-
-
-
Raffaella Brugnoni
-/-, -/.
8
6
c.864C>T
r.(=), r.(?)
p.(=), p.(Asn288=), p.(Asn288Asn)
-
benign
g.62045555G>A
g.63968195G>A
-
-
SCN4A_000009, SCN4A_000114
8 homozygous;
Clinindb (India)
, VKGL data sharing initiative Nederland
Bonhours [2003], Leiden, unpublished,
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs7218917
CLASSIFICATION record, Germline
-
8/2795 individuals
-
-
-
Andreas Laner
,
Vincent Janmaat
,
VKGL-NL_Nijmegen
,
Mohammed Faruq
-?/.
2
-
c.952T>C
r.(?)
p.(Trp318Arg)
-
likely benign
g.62045467A>G
g.63968107A>G
SCN4A(NM_000334.4):c.952T>C (p.W318R)
-
SCN4A_000180
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
,
VKGL-NL_Nijmegen
?/.
1
-
c.957T>G
r.(?)
p.(Tyr319Ter)
-
VUS
g.62045462A>C
g.63968102A>C
SCN4A(NM_000334.4):c.957T>G (p.(Tyr319Ter))
-
SCN4A_000211
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
-?/., ?/.
4
6
c.968C>T
r.(?)
p.(Thr323Met)
-
likely benign, VUS
g.62045451G>A
g.63968091G>A
SCN4A(NM_000334.4):c.968C>T (p.(Thr323Met), p.T323M)
-
SCN4A_000010, SCN4A_000113
VKGL data sharing initiative Nederland
Leiden, unpublished
-
rs80338952
CLASSIFICATION record, Germline
-
-
-
-
-
Andreas Laner
,
VKGL-NL_Leiden
,
Vincent Janmaat
,
VKGL-NL_Utrecht
-/-, -/., -?/.
7
7i
c.1100+7G>A
r.(=), r.(?)
p.(=)
-
benign, likely benign
g.62043834C>T
g.63966474C>T
SCN4A(NM_000334.4):c.1100+7G>A (p.(=), )
-
SCN4A_000011
VKGL data sharing initiative Nederland
Leiden, unpublished
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
VKGL-NL_Leiden
,
Vincent Janmaat
,
VKGL-NL_Utrecht
,
VKGL-NL_Nijmegen
+/., +?/.
4
-
c.1144C>A
r.(?)
p.(Pro382Thr)
-
likely pathogenic, pathogenic (recessive)
g.62043560G>T
g.63966200G>T
-
-
SCN4A_000179
VKGL data sharing initiative Nederland
PubMed: Zaharieva 2016
-
-
CLASSIFICATION record, Germline
yes
-
-
-
-
Johan den Dunnen
,
VKGL-NL_Nijmegen
-/-, -/.
6
8
c.1167T>C
r.(=), r.(?)
p.(=), p.(Tyr389=)
-
benign
g.62043537A>G
g.63966177A>G
Tyr389Tyr
-
SCN4A_000012, SCN4A_000132
VKGL data sharing initiative Nederland
Leiden, unpublished
-
rs16947296
CLASSIFICATION record, Germline
-
-
-
-
-
Birgit Neitzel
,
Andreas Laner
,
Vincent Janmaat
,
VKGL-NL_Nijmegen
?/.
1
8
c.1207A>C
r.(?)
p.(Met403Leu)
-
VUS
g.62043497T>G
g.63966137T>G
-
-
SCN4A_000013
-
Leiden, unpublished
-
-
Germline
-
-
-
-
-
Vincent Janmaat
-/-
95
8i
c.1242+105G>C
r.(?)
p.(=)
-
benign
g.62043357C>G
g.63965997C>G
-
-
SCN4A_000014
-
Bendahhou [2000], Leiden, unpublished, Ptácek [1991], Sasaki [1999], Tsujino [2003]
-
-
Germline
-
-
-
-
-
Vincent Janmaat
-/.
1
8i
c.1243-41A>G
r.(=)
p.(=)
-
benign
g.62042078T>C
g.63964718T>C
-
-
SCN4A_000100
-
-
-
rs2877373
Germline
-
-
-
-
-
Birgit Neitzel
+?/.
1
-
c.1298T>G
r.(?)
p.(Leu433Arg)
ACMG
VUS (!)
g.62041982A>C
-
-
-
SCN4A_000260
ACMG: PS4_SUP, PM2_SUP, PP1, PP3; positive segregation in affected daughter
-
-
-
Germline
yes
-
-
-
-
Andreas Laner
+/+, +/.
7
9
c.1333G>A
r.(?)
p.(Val445Met)
-
pathogenic
g.62041947C>T
g.63964587C>T
-
-
SCN4A_000015, SCN4A_000131
VKGL data sharing initiative Nederland
Leiden, unpublished
-
rs121908552
CLASSIFICATION record, Germline
-
-
-
-
-
Andreas Laner
,
Vincent Janmaat
,
VKGL-NL_Nijmegen
+?/.
1
9
c.1333G>T
r.(?)
p.(Val445Leu)
-
likely pathogenic
g.62041947C>A
g.63964587C>A
-
-
SCN4A_000225
-
-
-
-
Germline
yes
-
-
-
-
Raffaella Brugnoni
?/.
1
9
c.1354G>A
r.(?)
p.(Glu452Lys)
-
VUS
g.62041926C>T
g.63964566C>T
-
-
SCN4A_000219
-
-
-
rs372631097
Germline/De novo (untested)
-
-
-
-
-
Clinique des maladies neuromusculaires
?/.
1
-
c.1364A>C
r.(?)
p.(Glu455Ala)
-
VUS
g.62041916T>G
g.63964556T>G
SCN4A(NM_000334.4):c.1364A>C (p.E455A)
-
SCN4A_000162
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/., +?/.
2
-
c.1408C>T
r.(?)
p.(Gln470*), p.(Gln470Ter)
-
likely pathogenic, pathogenic (recessive)
g.62041872G>A
g.63964512G>A
-
-
SCN4A_000178
VKGL data sharing initiative Nederland
PubMed: Zaharieva 2016
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Johan den Dunnen
,
VKGL-NL_Nijmegen
-?/.
1
-
c.1413G>A
r.(?)
p.(Met471Ile)
-
likely benign
g.62041867C>T
g.63964507C>T
SCN4A(NM_000334.4):c.1413G>A (p.M471I)
-
SCN4A_000161
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-/., ?/.
6
9i
c.1453-23C>T
r.(=), r.(?)
p.(=)
-
benign, VUS
g.62041208G>A
g.63963848G>A
-
-
SCN4A_000016, SCN4A_000130
unclassified variant
Leiden, unpublished
-
rs75168694
Germline
-
-
-
-
-
Birgit Neitzel
,
Andreas Laner
,
Vincent Janmaat
-?/.
1
-
c.1453-4A>G
r.spl?
p.?
-
likely benign
g.62041189T>C
g.63963829T>C
SCN4A(NM_000334.4):c.1453-4A>G (p.?)
-
SCN4A_000208
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
-?/., ?/.
3
-
c.1462G>A
r.(?)
p.(Ala488Thr)
-
likely benign, VUS
g.62041176C>T
g.63963816C>T
SCN4A(NM_000334.4):c.1462G>A (p.A488T, p.(Ala488Thr))
-
SCN4A_000207
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
,
VKGL-NL_Rotterdam
,
VKGL-NL_VUmc
-/.
5
10
c.1570A>G
r.(?)
p.(Ser524Gly)
-
benign
g.62041068T>C
g.63963708T>C
SCN4A(NM_000334.4):c.1570A>G (p.S524G)
-
SCN4A_000093
VKGL data sharing initiative Nederland
-
-
rs6504191
CLASSIFICATION record, Germline
-
-
-
-
-
Birgit Neitzel
,
VKGL-NL_Groningen
,
VKGL-NL_Utrecht
,
VKGL-NL_Nijmegen
-/-
12
10
c.1570G>A
r.(?)
p.(Gly524Ser)
-
benign
g.62041068C>T
g.63963708C>T
-
-
SCN4A_000017
1 more item
Bendahhou [2000], Leiden, unpublished
-
-
Germline
-
-
-
-
-
Vincent Janmaat
-/.
2
-
c.1606+20G>A
r.(=)
p.(=)
-
benign
g.62041012C>T
g.63963652C>T
-
-
SCN4A_000129
VKGL data sharing initiative Nederland
-
-
rs73326363
CLASSIFICATION record, Germline
-
-
-
-
-
Andreas Laner
,
VKGL-NL_Nijmegen
+?/., ?/.
2
-
c.1762A>G
r.(?)
p.(Ile588Val)
ACMG
likely pathogenic, VUS
g.62038636T>C
g.63961276T>C
-
-
SCN4A_000128
ACMG: PS3,PM2,PP3, PolyPhen-2. benign (PSIC:0.443)
-
-
-
Germline
-
-
-
-
-
Andreas Laner
-?/., ?/.
5
-
c.1796A>G
r.(?)
p.(His599Arg)
-
likely benign, VUS
g.62038602T>C
g.63961242T>C
SCN4A(NM_000334.4):c.1796A>G (p.H599R, p.(His599Arg))
-
SCN4A_000127
conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous;
Clinindb (India)
,
1 more item
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs187401185
CLASSIFICATION record, Germline
-
7/2794 individuals
-
-
-
Andreas Laner
,
VKGL-NL_Leiden
,
VKGL-NL_Rotterdam
,
VKGL-NL_Nijmegen
,
Mohammed Faruq
-?/.
1
-
c.1844T>G
r.(?)
p.(Leu615Arg)
-
likely benign
g.62038554A>C
g.63961194A>C
SCN4A(NM_000334.4):c.1844T>G (p.(Leu615Arg))
-
SCN4A_000206
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
-?/.
1
-
c.1845+2T>G
r.spl?
p.?
-
likely benign
g.62038551A>C
g.63961191A>C
SCN4A(NM_000334.4):c.1845+2T>G (p.?)
-
SCN4A_000205
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
-?/.
2
-
c.1845+3A>G
r.spl?
p.?
-
likely benign
g.62038550T>C
g.63961190T>C
SCN4A(NM_000334.4):c.1845+3A>G (, p.?)
-
SCN4A_000203
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
,
VKGL-NL_Rotterdam
-?/.
1
-
c.1845+7A>G
r.(=)
p.(=)
-
likely benign
g.62038546T>C
g.63961186T>C
SCN4A(NM_000334.4):c.1845+7A>G (p.(=))
-
SCN4A_000202
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
-?/.
1
-
c.1845+7A>T
r.(=)
p.(=)
-
likely benign
g.62038546T>A
g.63961186T>A
SCN4A(NM_000334.4):c.1845+7A>T (p.(=))
-
SCN4A_000201
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
-?/.
1
-
c.1845+18A>T
r.(=)
p.(=)
-
likely benign
g.62038535T>A
-
SCN4A(NM_000334.4):c.1845+18A>T (p.(=))
-
SCN4A_000268
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
?/.
1
12
c.1846-25dup
r.(=)
p.(=)
-
VUS
g.62036823dup
g.63959463dup
-
-
SCN4A_000018
-
Leiden, unpublished
-
-
Germline
-
-
-
-
-
Vincent Janmaat
+/+, +/.
2
12
c.2006G>A
r.(?)
p.(Arg669His)
-
pathogenic
g.62036638C>T
g.63959278C>T
-
-
SCN4A_000019
VKGL data sharing initiative Nederland
Leiden, unpublished
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Vincent Janmaat
,
VKGL-NL_Nijmegen
+/+
2
12
c.2014C>A
r.(?)
p.(Arg672Ser)
-
pathogenic
g.62036630G>T
g.63959270G>T
-
-
SCN4A_000020
-
Leiden, unpublished
-
-
Germline
-
-
-
-
-
Vincent Janmaat
+/+, +/.
2
12
c.2014C>G
r.(?)
p.(Arg672Gly)
-
pathogenic
g.62036630G>C
g.63959270G>C
-
-
SCN4A_000021
VKGL data sharing initiative Nederland
Leiden, unpublished
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Vincent Janmaat
,
VKGL-NL_Nijmegen
+/+, +/.
8
12
c.2014C>T
r.(?)
p.(Arg672Cys)
-
pathogenic
g.62036630G>A
g.63959270G>A
-
-
SCN4A_000022, SCN4A_000126
-
Kim 2004 Neuromuscul Disord 14, 727, Leiden, unpublished, Lerche [1993]
-
-
Germline
-
-
-
-
-
Birgit Neitzel
,
Andreas Laner
,
Vincent Janmaat
+/+, +/.
4
12
c.2015G>A
r.(?)
p.(Arg672His)
ACMG
pathogenic
g.62036629C>T
g.63959269C>T
-
-
SCN4A_000023
1 more item
Leiden, unpublished
-
rs80338788
Germline
-
-
-
-
-
Andreas Laner
,
Vincent Janmaat
+/+
1
13
c.2023C>G
r.(?)
p.(Arg675Gly)
-
pathogenic
g.62034875G>C
g.63957515G>C
-
-
SCN4A_000025
-
Leiden, unpublished
-
-
Germline
-
-
-
-
-
Vincent Janmaat
+/+
1
13
c.2024C>T
r.(?)
p.(Arg675Trp)
-
pathogenic
g.62034874G>A
g.63957514G>A
-
-
SCN4A_000026
1 more item
Leiden, unpublished
-
-
Germline
-
-
-
-
-
Vincent Janmaat
+/+
1
13
c.2024G>A
r.(?)
p.(Arg675Gln)
-
pathogenic
g.62034874C>T
g.63957514C>T
-
-
SCN4A_000027
-
Leiden, unpublished
-
-
Germline
-
-
-
-
-
Vincent Janmaat
+/+
1
13
c.2065C>A
r.(?)
p.(Leu689Ile)
-
pathogenic
g.62034833G>T
g.63957473G>T
-
-
SCN4A_000028
-
Leiden, unpublished
-
-
Germline
-
-
-
-
-
Vincent Janmaat
+/+
1
13
c.2065C>G
r.(?)
p.(Leu689Val)
-
pathogenic
g.62034833G>C
g.63957473G>C
-
-
SCN4A_000029
-
Leiden, unpublished
-
-
Germline
-
-
-
-
-
Vincent Janmaat
+/+
3
13
c.2065C>T
r.(?)
p.(Leu689Phe)
-
pathogenic
g.62034833G>A
g.63957473G>A
-
-
SCN4A_000030
-
Leiden, unpublished
-
-
Germline
-
-
-
-
-
Vincent Janmaat
+/., +?/.
2
13
c.2076C>G
r.(?)
p.(Ile692Met)
ACMG
likely pathogenic, pathogenic
g.62034822G>C
g.63957462G>C
-
-
SCN4A_000224
ACMG: PS3,PM1,PM2,PP1,PP3; Fan et al. 2017. Clin Genet 91: 859-67
-
-
-
Germline
yes
-
-
-
-
Andreas Laner
,
Raffaella Brugnoni
+/+, +/.
3
13
c.2078T>C
r.(?)
p.(Ile693Thr)
-
pathogenic
g.62034820A>G
g.63957460A>G
-
-
SCN4A_000031, SCN4A_000125
-
Leiden, unpublished
-
-
Germline
-
-
-
-
-
Andreas Laner
,
Vincent Janmaat
+/.
1
-
c.2095G>A
r.(?)
p.(Ala699Thr)
-
pathogenic
g.62034803C>T
g.63957443C>T
-
-
SCN4A_000274
-
PubMed: Brugnoni 2022
,
Journal: Brugnoni 2022
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+?/., ?/.
3
13
c.2108T>C
r.(2108u>c), r.(?)
p.(Leu703Pro)
-
likely pathogenic, VUS
g.62034790A>G
g.63957430A>G
-
-
SCN4A_000032, SCN4A_000124
PolyPhen-2: Probably Damaging
Leiden, unpublished
-
-
De novo, Germline
-
-
-
-
-
Angela Abicht
,
Andreas Laner
,
Vincent Janmaat
+/+, +/., +?/.
10
13
c.2111C>T
r.(?)
p.(Thr704Met)
-
likely pathogenic, pathogenic
g.62034787G>A
g.63957427G>A
-
-
SCN4A_000033, SCN4A_000123
combination of variants not reported, VKGL data sharing initiative Nederland,
1 more item
Leiden, unpublished,
PubMed: Topf 2020
-
rs80338957
CLASSIFICATION record, Germline
-
1/1001 cases
-
-
-
Johan den Dunnen
,
Andreas Laner
,
Vincent Janmaat
,
VKGL-NL_Nijmegen
?/.
1
-
c.2120T>C
r.(?)
p.(Leu707Pro)
-
VUS
g.62034778A>G
g.63957418A>G
-
-
SCN4A_000147
PolyPhen-2: probably damaging (PSIC: 1,0)
-
-
-
Germline
-
-
-
-
-
Andreas Laner
?/.
1
13
c.2188G>A
r.(?)
p.(Val730Met)
-
VUS
g.62034710C>T
g.63957350C>T
-
-
SCN4A_000034
-
Leiden, unpublished
-
-
Germline
-
-
-
-
-
Vincent Janmaat
?/.
1
-
c.2266C>T
r.(?)
p.(Arg756Cys)
ACMG
VUS
g.62034632G>A
g.63957272G>A
-
-
SCN4A_000242
-
PubMed: Ravenscroft 2020
,
Journal: Ravenscroft 2020
-
-
Germline
-
-
-
-
-
Gianina Ravenscroft
?/.
1
-
c.2279G>A
r.(?)
p.(Gly760Glu)
-
VUS
g.62034619C>T
g.63957259C>T
-
-
SCN4A_000261
-
PubMed: Fichna 2018
,
PubMed: Macias 2021
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-/-, -/.
9
13
c.2289C>T
r.(=), r.(?)
p.(=), p.(Ile763=), p.(Ile763Ile)
-
benign
g.62034609G>A
g.63957249G>A
-
-
SCN4A_000035, SCN4A_000146
VKGL data sharing initiative Nederland
Leiden, unpublished
-
-
CLASSIFICATION record, Germline
-
-
-
-
-
Birgit Neitzel
,
Andreas Laner
,
Vincent Janmaat
,
VKGL-NL_Nijmegen
?/.
1
-
c.2329A>T
r.(?)
p.(Met777Leu)
-
VUS
g.62034569T>A
-
SCN4A(NM_000334.4):c.2329A>T (p.M777L)
-
SCN4A_000253
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
+/+, -/., -?/., ?/.
10
13
c.2341G>A
r.(?)
p.(Val781Ile)
-
benign, likely benign, pathogenic, VUS
g.62034557C>T
g.63957197C>T
SCN4A(NM_000334.4):c.2341G>A (p.(Val781Ile), p.V781I)
-
SCN4A_000036
14 heterozygous, no homozygous;
Clinindb (India)
, VKGL data sharing initiative Nederland
Leiden, unpublished,
PubMed: Narang 2020
,
Journal: Narang 2020
-
rs62070884
CLASSIFICATION record, Germline, Unknown
-
14/2794 individuals
-
-
-
Birgit Neitzel
,
Uschi Peeters
,
Andreas Laner
,
VKGL-NL_Leiden
,
Vincent Janmaat
,
VKGL-NL_Groningen
,
VKGL-NL_Utrecht
,
Mohammed Faruq
-/.
2
13i
c.2376+43G>A
r.(=), r.(?)
p.(=)
-
benign
g.62034479C>T
g.63957119C>T
-
-
SCN4A_000103, SCN4A_000145
-
-
-
-
Germline
-
-
-
-
-
Birgit Neitzel
,
Andreas Laner
+/.
1
-
c.2411C>T
r.(?)
p.(Ser804Phe)
-
pathogenic
g.62029226G>A
g.63951866G>A
-
-
SCN4A_000144
-
-
-
-
Germline
-
-
-
-
-
Andreas Laner
?/.
2
14
c.2411T>A
r.(?)
p.(Ser804Thr)
-
VUS
g.62029226A>T
g.63951866A>T
-
-
SCN4A_000037
1 more item
Leiden, unpublished, Okuda [2001]
-
-
Germline
-
-
-
-
-
Vincent Janmaat
-?/.
1
-
c.2511G>A
r.(?)
p.(Lys837=)
-
likely benign
g.62029126C>T
-
SCN4A(NM_000334.4):c.2511G>A (p.K837=)
-
SCN4A_000259
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
« First
Prev
1
2
3
Next
Last »
Powered by
LOVD v.3.0
Build 27
LOVD software ©2004-2022
Leiden University Medical Center