Global Variome shared LOVD
MICU1 (mitochondrial calcium uptake 1)
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Curator:
Johan den Dunnen
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All variants in the MICU1 gene
This database is one of the gene variant databases from the
"Leiden Muscular Dystrophy pages" (LMDp)
The variants shown are described using the NM_001195518.2 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.
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
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
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)
conflicting
association
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.
99 entries on 1 page. Showing entries 1 - 99.
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Legend
How to query
Effect
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_1i
c.-2094_-2+683del
r.0?
p.0
-
pathogenic (recessive)
g.74385085_74387860del
g.72625327_72628102del
del ex1
-
MICU1_000042
2755bp deletion
PubMed: Lewis-Smith 2016
,
Journal: Lewis-Smith 2016
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
+/.
1i_2i
c.(-2+1_-1-19)_(161+21_162-1)del
r.-1_161del
p.0?
ACMG
pathogenic (recessive)
g.(74322822_74326370)_(74326571_74385767)del
g.(72563064_72566612)_(72566813_72626009)del
g. (?_74326370)_(74326571_?), del ex2
-
MICU1_000037
ACMG PVS1, PM2
PubMed: Sharova 2022
,
Journal: Sharova 2022
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
1i_2i
c.(-2+1_-1-1)_(161+1_162-1)del
r.(-1_161del)
p.0?
-
pathogenic (recessive)
g.(74322822_74326390)_(74326553_74385767)del
g.(72563064_72566632)_(72566795_72626009)del
del ex2
-
MICU1_000040
-
PubMed: Kohlschmidt 2021
,
Journal: Kohlschmidt 2021
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+?/.
8i_10i
c.(933+1_934-69_1180+129_1181-1)dup
r.?
p.?
-
likely pathogenic (recessive)
g.(74135631_74167558)_(74183198_74234857)dup
g.(72375873_72407800)_(72423440_72475099)dup
-
(74167558_74183198)x3 mat, dup ex9-10
MICU1_000041
-
PubMed: Musa 2019
,
Journal: Musa 2019
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
2
c.1A>G
r.(?)
p.0?
-
pathogenic
g.74326551T>C
g.72566793T>C
-
-
MICU1_000014
-
PubMed: O'Grady 2016
-
rs747832014
Germline
yes
-
-
-
-
Sandra Cooper
+/.
2
c.40del
r.(?)
p.(Ala14LeufsTer20)
-
pathogenic (recessive)
g.74326513del
g.72566755del
-
-
MICU1_000044
-
PubMed: Cherot 2017
-
rs749124658
Germline
-
-
-
-
-
Johan den Dunnen
+?/.
-
c.52C>T
r.(?)
p.(Arg18Ter)
-
likely pathogenic (recessive)
g.74326500G>A
g.72566742G>A
-
-
MICU1_000039
-
PubMed: Kohlschmidt 2021
,
Journal: Kohlschmidt 2021
-
-
Germline
-
-
-
-
-
Johan den Dunnen
?/.
2
c.53G>A
r.(?)
p.(Gln18Arg)
-
VUS
g.74326499C>T
g.72566741C>T
-
-
MICU1_000002
found once in 8309 European Americans, not in 3898 African Americans
Exome Variant Server
-
-
Unknown
-
1/12207 controls
-
-
-
Johan den Dunnen
?/.
2
c.77C>G
r.(?)
p.(Pro26Arg)
-
VUS
g.74326475G>C
g.72566717G>C
-
-
MICU1_000003
not in 3898 African Americans
Exome Variant Server
-
-
Unknown
-
2/12236 controls
-
-
-
Johan den Dunnen
?/.
2
c.83A>G
r.(?)
p.(Gln83Arg)
-
VUS
g.74326469T>C
g.72566711T>C
-
-
MICU1_000004
-
Exome Variant Server
-
-
Unknown
-
1/12225 controls
-
-
-
Johan den Dunnen
?/.
2
c.114C>G
r.(?)
p.(Phe38Leu)
-
VUS
g.74326438G>C
g.72566680G>C
-
-
MICU1_000005
-
Exome Variant Server
-
-
Unknown
-
1/12225 controls
-
-
-
Johan den Dunnen
?/.
-
c.119G>A
r.(?)
p.(Gly40Glu)
-
VUS
g.74326433C>T
g.72566675C>T
MICU1(NM_001363513.1):c.119G>A (p.G40E)
-
MICU1_000025
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
-?/.
-
c.143C>T
r.(?)
p.(Thr48Ile)
-
likely benign
g.74326409G>A
g.72566651G>A
MICU1(NM_001195518.1):c.143C>T (p.(Thr48Ile))
-
MICU1_000021
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
+/.
-
c.156G>A
r.(?)
p.(Trp52Ter)
ACMG
pathogenic (recessive)
g.74326396C>T
g.72566638C>T
-
-
MICU1_000046
ACMG PVS1, PM2_Supporting, MP3
Journal: Li 2025
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
+/.
-
c.156G>A
r.(?)
p.(Trp52Ter)
ACMG
pathogenic (recessive)
g.74326396C>T
g.72566638C>T
-
-
MICU1_000046
ACMG PVS1, PM2_Supporting, MP3
Journal: Li 2025
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
?/.
2
c.160A>G
r.(?)
p.(Arg54Gly)
-
VUS
g.74326392T>C
g.72566634T>C
-
-
MICU1_000006
-
Exome Variant Server
-
-
Unknown
-
1/12175 controls
-
-
-
Johan den Dunnen
+?/.
2i
c.161+1G>A
r.spl
p.?
-
likely pathogenic
g.74326390C>T
g.72566632C>T
-
-
MICU1_000007
-
Exome Variant Server
-
rs375502236
Unknown
-
1/12179 controls
-
-
-
Johan den Dunnen
+/.
-
c.161+1G>A
r.spl
p.?
-
pathogenic (recessive)
g.74326390C>T
g.72566632C>T
-
-
MICU1_000007
-
PubMed: Wilton 2020
,
Journal: Wilton 2020
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
-
c.161+1G>A
r.spl
p.?
-
pathogenic (recessive)
g.74326390C>T
g.72566632C>T
-
-
MICU1_000007
-
PubMed: Saneto 2022
,
Journal: Saneto 2022
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
+/.
-
c.161+1G>A
r.spl
p.0?
-
pathogenic (recessive)
g.74326390C>T
g.72566632C>T
-
-
MICU1_000007
-
PubMed: Klee 2021
,
Journal: Klee 2021
-
rs375502236
Germline
-
-
-
-
-
Johan den Dunnen
-?/.
-
c.161+3G>A
r.spl?
p.?
-
likely benign
g.74326388C>T
g.72566630C>T
MICU1(NM_006077.3):c.161+3G>A
-
MICU1_000018
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
?/.
3
c.211G>C
r.(?)
p.(Gly71Arg)
-
VUS
g.74322772C>G
g.72563014C>G
-
-
MICU1_000008
-
Exome Variant Server
-
-
Unknown
-
1/11925 controls
-
-
-
Johan den Dunnen
+?/.
-
c.235G>T
r.(?)
p.(Glu79Ter)
ACMG
likely pathogenic (recessive)
g.74322748C>A
g.72562990C>A
-
-
MICU1_000047
ACMG PVS1, PM2_Supporting
Journal: Li 2025
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
+?/.
-
c.235G>T
r.(?)
p.(Glu79Ter)
ACMG
likely pathogenic (recessive)
g.74322748C>A
g.72562990C>A
-
-
MICU1_000047
ACMG PVS1, PM2_Supporting
Journal: Li 2025
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
-?/.
-
c.307C>T
r.(?)
p.(Arg103Cys)
-
likely benign
g.74322676G>A
g.72562918G>A
MICU1(NM_001195518.1):c.307C>T (p.(Arg103Cys))
-
MICU1_000016
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
+?/.
3i_8i
c.(330+1_331-1)_(933+1_934-1)del
r.?
p.?
ACMG
likely pathogenic (recessive)
g.(74183130_74234857)_(74311100_74322652)del
g.(72423372_72475099)_(72551342_72562894)del
-
-
MICU1_000049
ACMG PVS1, PM2_Supporting
Journal: Li 2025
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
+?/.
3i_8i
c.(330+1_331-1)_(933+1_934-1)del
r.?
p.?
ACMG
likely pathogenic (recessive)
g.(74183130_74234857)_(74311100_74322652)del
g.(72423372_72475099)_(72551342_72562894)del
-
-
MICU1_000049
ACMG PVS1, PM2_Supporting
Journal: Li 2025
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
?/.
-
c.355C>G
r.(?)
p.(Arg119Gly)
-
VUS
g.74311075G>C
g.72551317G>C
MICU1(NM_001195518.1):c.355C>G (p.(Arg119Gly))
-
MICU1_000027
VKGL data sharing initiative Nederland
-
-
rs538329212
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
+/.
-
c.355C>T
r.(?)
p.(Arg119Ter)
-
pathogenic (recessive)
g.74311075G>A
g.72551317G>A
-
-
MICU1_000045
-
PubMed: Beheshti 2025
,
Journal: Beheshti 2025
-
rs538329212
Germline
yes
-
-
-
-
Johan den Dunnen
+?/.
4
c.385C>T
r.(?)
p.(Arg129*)
-
likely pathogenic
g.74311045G>A
g.72551287G>A
-
-
MICU1_000009
-
Exome Variant Server
-
rs369069489
Unknown
-
1/11961 controls
-
-
-
Johan den Dunnen
+/.
-
c.385C>T
r.(?)
p.(Arg129Ter)
ACMG
pathogenic (recessive)
g.74311045G>A
g.72551287G>A
-
-
MICU1_000009
ACMG PVS1, PM3, PS4, PM2, PP3
PubMed: Bitarafan 2021
,
Journal: Bitarafan 2021
-
rs369069489
Germline
yes
-
-
-
-
Johan den Dunnen
+/.
4
c.386G>C
r.(?)
p.(Arg129Pro)
-
pathogenic
g.74311044C>G
g.72551286C>G
-
-
MICU1_000013
-
PubMed: O'Grady 2016
-
rs375664373
Germline
yes
-
-
-
-
Sandra Cooper
+?/.
-
c.386G>C
r.(?)
p.(Arg129Pro)
-
likely pathogenic (recessive)
g.74311044C>G
g.72551286C>G
-
-
MICU1_000013
-
PubMed: Wilton 2020
,
Journal: Wilton 2020
-
rs375664373
Germline
-
-
-
-
-
Johan den Dunnen
+/.
-
c.386G>C
r.(?)
p.(Arg129Pro)
-
pathogenic (recessive)
g.74311044C>G
g.72551286C>G
-
-
MICU1_000013
-
PubMed: Saneto 2022
,
Journal: Saneto 2022
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
+/.
-
c.386G>C
r.(?)
p.(Arg129Pro)
-
pathogenic (recessive)
g.74311044C>G
g.72551286C>G
-
-
MICU1_000013
-
PubMed: Klee 2021
,
Journal: Klee 2021
-
rs375664373
Germline
-
-
-
-
-
Johan den Dunnen
+?/.
4i
c.493+1G>A
r.spl
p.?
-
likely pathogenic
g.74310936C>T
g.72551178C>T
-
-
MICU1_000011
-
Exome Variant Server
-
rs375775506
Unknown
-
2/11780 controls
-
-
-
Johan den Dunnen
+/.
4i
c.493+1G>A
r.(331_493del)
p.(Val111ThrfsTer7)
-
pathogenic (recessive)
g.74310936C>T
g.72551178C>T
-
-
MICU1_000011
-
PubMed: Beheshti 2025
,
Journal: Beheshti 2025
-
rs375775506
Germline
yes
-
-
-
-
Johan den Dunnen
+?/.
-
c.508C>T
r.(?)
p.(Gln170Ter)
-
likely pathogenic (recessive)
g.74293533G>A
g.72533775G>A
-
-
MICU1_000035
-
PubMed: Beheshti 2025
,
Journal: Beheshti 2025
-
rs779752327
Germline
yes
-
-
-
-
Johan den Dunnen
+?/.
5
c.513T>A
r.(?)
p.(Tyr171Ter)
ACMG
pathogenic
g.74293528A>T
g.72533770A>T
-
-
MICU1_000028
-
-
-
-
Germline
-
-
-
-
-
Gautham Arunachal
-?/.
-
c.537+9898A>G
r.(?)
p.(=)
-
likely benign
g.74283606T>C
g.72523848T>C
MICU1(NM_001195519.1):c.12A>G (p.I4M)
-
MICU1_000020
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
-
c.547C>T
r.(?)
p.(Gln183Ter)
ACMG
pathogenic (recessive)
g.74268018G>A
g.72508260G>A
-
-
MICU1_000022
ACMG PVS1,PM2,PP1
PubMed: Anazi 2017
-
rs777327250
Germline
-
-
-
-
-
Johan den Dunnen
+/.
-
c.547C>T
r.(?)
p.(Gln183Ter)
-
pathogenic (recessive)
g.74268018G>A
g.72508260G>A
-
-
MICU1_000022
-
PubMed: Beheshti 2025
,
Journal: Beheshti 2025
-
rs777327250
Germline
yes
-
-
-
-
Johan den Dunnen
+/.
-
c.547C>T
r.(?)
p.(Gln183Ter)
-
pathogenic (recessive)
g.74268018G>A
g.72508260G>A
-
-
MICU1_000022
-
PubMed: Alfares 2017
,
Journal: Alfares 2017
-
rs777327250
Germline
-
-
-
-
-
Johan den Dunnen
+/.
-
c.547C>T
r.(?)
p.(Gln183Ter)
-
pathogenic (recessive)
g.74268018G>A
g.72508260G>A
-
-
MICU1_000022
-
PubMed: Alkelai 2023
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
-
-
MICU1_000038
-
PubMed: Beheshti 2025
,
Journal: Beheshti 2025
-
rs755651388
Germline
yes
-
-
-
-
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
-
-
MICU1_000038
-
PubMed: Finsterer 2024
,
Journal: Finsterer 2024
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
-
-
MICU1_000038
-
PubMed: Kohlschmidt 2021
,
Journal: Kohlschmidt 2021
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
Q185*
-
MICU1_000038
-
PubMed: Musa 2019
,
Journal: Musa 2019
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
Q185*
-
MICU1_000038
-
PubMed: Musa 2019
,
Journal: Musa 2019
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
Q185*
-
MICU1_000038
-
PubMed: Musa 2019
,
Journal: Musa 2019
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
Q185*
-
MICU1_000038
-
PubMed: Musa 2019
,
Journal: Musa 2019
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
Q185*
-
MICU1_000038
-
PubMed: Musa 2019
,
Journal: Musa 2019
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
Q185*
-
MICU1_000038
-
PubMed: Musa 2019
,
Journal: Musa 2019
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
Q185*
-
MICU1_000038
-
PubMed: Musa 2019
,
Journal: Musa 2019
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
Q185*
-
MICU1_000038
-
PubMed: Musa 2019
,
Journal: Musa 2019
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
Q185*
-
MICU1_000038
-
PubMed: Musa 2019
,
Journal: Musa 2019
-
-
Germline
-
-
-
-
-
Johan den Dunnen
+/.
-
c.553C>T
r.(?)
p.(Arg185Ter)
-
pathogenic (recessive)
g.74268012G>A
g.72508254G>A
Q185*
-
MICU1_000038
-
PubMed: Musa 2019
,
Journal: Musa 2019
-
-
Germline
-
-
-
-
-
Johan den Dunnen
-?/.
-
c.559A>G
r.(?)
p.(Lys187Glu)
-
likely benign
g.74268006T>C
g.72508248T>C
MICU1(NM_006077.3):c.565A>G (p.K189E)
-
MICU1_000017
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
-
c.608_609dup
r.(?)
p.(Ile204SerfsTer30)
-
pathogenic
g.74267957_74267958dup
g.72508199_72508200dup
MICU1(NM_006077.4):c.614_615dupTC (p.I206Sfs*30)
-
MICU1_000019
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Groningen
+?/.
7
c.638_639del
r.spl
p.(Thr213AsnfsTer11)
-
likely pathogenic
g.74267928_74267929del
g.72508170_72508171del
NM_006077.3:c.644_645del
-
MICU1_000010
found 19x in European Americans, 13x in African Americans
Exome Variant Server
-
-
Unknown
-
32/11324 controls
-
-
-
Johan den Dunnen
+?/.
8i
c.735+1G>A
r.spl
p.?
-
likely pathogenic
g.74236931C>T
g.72477173C>T
NM_006077.3:c.741+1G>A
-
MICU1_000001
gene implicated in limb-girdle muscular dystrophy (LGMD)
-
-
rs369915689
Germline
-
-
-
-
-
Johan den Dunnen
?/.
8i
c.735+1G>A
r.spl?
p.?
-
VUS
g.74236931C>T
g.72477173C>T
NM_006077.3:c.741+1G>A
-
MICU1_000001
found once in 7119 European Americans, not in 3114 African Americans
Exome Variant Server
-
rs369915689
Unknown
-
1/10233 controls
-
-
-
Johan den Dunnen
+?/.
8i
c.735+1G>A
r.spl
p.?
-
likely pathogenic
g.74236931C>T
g.72477173C>T
NM_006077.3:c.741+1G>A
-
MICU1_000001
exome sequencing; initially reported as LOVD VIP with contact request to jointly proof definite disease association
PubMed: Logan 2014
,
OMIM:var0002
-
rs369915689
Germline
yes
-
-
-
-
Marjolein Kriek
+?/.
8i
c.735+1G>A
r.spl
p.?
-
likely pathogenic
g.74236931C>T
g.72477173C>T
NM_006077.3:c.741+1G>A
-
MICU1_000001
initially reported as LOVD VIP with contact request to jointly proof definite disease association
PubMed: Logan 2014
,
OMIM:var0002
-
rs369915689
Germline
yes
-
-
-
-
Marjolein Kriek
+/.
8i
c.735+1G>A
r.735_736ins[A;735+2_735+155]
p.Val246ThrfsTer9
-
pathogenic
g.74236931C>T
g.72477173C>T
NM_006077.3:c.741+1G>A
-
MICU1_000001
whole exome sequencing; fibroblast RNA; initially reported as LOVD VIP with contact request to jointly proof definite disease association
PubMed: Logan 2014
,
OMIM:var0002
-
rs369915689
Germline
yes
-
-
-
-
Marjolein Kriek
+?/.
8i
c.735+1G>A
r.spl
p.?
-
likely pathogenic
g.74236931C>T
g.72477173C>T
NM_006077.3:c.741+1G>A
-
MICU1_000001
initially reported as LOVD VIP with contact request to jointly proof definite disease association
PubMed: Logan 2014
,
OMIM:var0002
-
rs369915689
Germline
yes
-
-
-
-
Marjolein Kriek
+/.
8i
c.735+1G>A
r.spl
p.?
-
pathogenic
g.74236931C>T
g.72477173C>T
MICU1(NM_001195518.1):c.735+1G>A (p.?), MICU1(NM_006077.3):c.741+1G>A, MICU1(NM_006077.4):c.741+1G>A
-
MICU1_000001
VKGL data sharing initiative Nederland
-
-
rs369915689
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Utrecht
+?/.
8i
c.735+1G>A
r.spl
p.?
-
likely pathogenic
g.74236931C>T
g.72477173C>T
MICU1(NM_001195518.1):c.735+1G>A (p.?), MICU1(NM_006077.3):c.741+1G>A, MICU1(NM_006077.4):c.741+1G>A
-
MICU1_000001
VKGL data sharing initiative Nederland
-
-
rs369915689
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
+/.
8i
c.735+1G>A
r.spl
p.?
-
pathogenic
g.74236931C>T
g.72477173C>T
MICU1(NM_001195518.1):c.735+1G>A (p.?), MICU1(NM_006077.3):c.741+1G>A, MICU1(NM_006077.4):c.741+1G>A
-
MICU1_000001
VKGL data sharing initiative Nederland
-
-
rs369915689
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
8i
c.735+1G>A
r.spl
p.?
-
pathogenic
g.74236931C>T
g.72477173C>T
MICU1(NM_001195518.1):c.735+1G>A (p.?), MICU1(NM_006077.3):c.741+1G>A, MICU1(NM_006077.4):c.741+1G>A
-
MICU1_000001
VKGL data sharing initiative Nederland
-
-
rs369915689
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_VUmc
+/.
8i
c.735+1G>A
r.spl
p.?
ACMG
pathogenic (recessive)
g.74236931C>T
g.72477173C>T
-
-
MICU1_000026
ACMG PVS1, PS4_MOD, PM2_SUP, PM3_SUP
PMID:24336167
VCV000101046.9
rs369915689
Germline
?
-
-
-
-
Andreas Laner
+/.
8i
c.735+1G>A
r.spl
p.?
-
pathogenic (recessive)
g.74236931C>T
g.72477173C>T
NM_006077.3:c.741 + 1G>A
-
MICU1_000001
-
PubMed: Ten Dam 2021
,
Journal: Ten Dam 2021
-
rs369915689
Germline
yes
-
-
-
-
Johan den Dunnen
+?/.
8i
c.736-1G>A
r.spl
p.?
-
likely pathogenic
g.74235056C>T
g.72475298C>T
MICU1(NM_001195518.2):c.736-1G>A
-
MICU1_000033
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
-?/.
-
c.885C>T
r.(?)
p.(Asn295=)
-
likely benign
g.74234906G>A
g.72475148G>A
MICU1(NM_006077.3):c.891C>T (p.N297=)
-
MICU1_000015
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Rotterdam
+/.
-
c.931G>T
r.(?)
p.(Glu311Ter)
-
pathogenic
g.74234860C>A
g.72475102C>A
-
-
MICU1_000024
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
-
c.981T>G
r.(?)
p.(Phe327Leu)
-
VUS
g.74183082A>C
g.72423324A>C
MICU1(NM_001195518.2):c.981T>G (p.(Phe327Leu))
-
MICU1_000031
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
+/.
-
c.1042C>T
r.(?)
p.(Gln348Ter)
-
pathogenic (recessive)
g.74183021G>A
g.72423263G>A
NM_006077.3:c.1048C>T
-
MICU1_000043
-
PubMed: Cherot 2017
-
rs1135401814
Germline
-
-
-
-
-
Johan den Dunnen
+/.
10i
c.1072-1G>C
r.spl
p.?
-
pathogenic
g.74167796C>G
g.72408038C>G
NM_006077.3:c.1078-1G>C
-
MICU1_000012
homozygosity mapping, exome sequencing
PubMed: Logan 2014
,
OMIM:var0001
-
rs754639936
Germline
yes
-
-
-
-
Johan den Dunnen
+/.
10i
c.1072-1G>C
r.spl
p.?
-
pathogenic
g.74167796C>G
g.72408038C>G
NM_006077.3:c.1078-1G>C
-
MICU1_000012
homozygosity mapping
PubMed: Logan 2014
,
OMIM:var0001
-
rs754639936
Germline
yes
-
-
-
-
Johan den Dunnen
+/.
10i
c.1072-1G>C
r.spl
p.?
-
pathogenic
g.74167796C>G
g.72408038C>G
NM_006077.3:c.1078-1G>C
-
MICU1_000012
homozygosity mapping
PubMed: Logan 2014
,
OMIM:var0001
-
rs754639936
Germline
yes
-
-
-
-
Johan den Dunnen
+/.
10i
c.1072-1G>C
r.spl
p.?
-
pathogenic
g.74167796C>G
g.72408038C>G
NM_006077.3:c.1078-1G>C
-
MICU1_000012
homozygosity mapping
PubMed: Logan 2014
,
OMIM:var0001
-
rs754639936
Germline
yes
-
-
-
-
Johan den Dunnen
+/.
10i
c.1072-1G>C
r.spl
p.?
-
pathogenic
g.74167796C>G
g.72408038C>G
NM_006077.3:c.1078-1G>C
-
MICU1_000012
homozygosity mapping
PubMed: Logan 2014
,
OMIM:var0001
-
rs754639936
Germline
yes
-
-
-
-
Johan den Dunnen
+/.
10i
c.1072-1G>C
r.spl
p.?
-
pathogenic
g.74167796C>G
g.72408038C>G
NM_006077.3:c.1078-1G>C
-
MICU1_000012
-
PubMed: Logan 2014
,
OMIM:var0001
-
rs754639936
Germline
yes
-
-
-
-
Johan den Dunnen
+/.
10i
c.1072-1G>C
r.1071_1072ins[1072-34_1072-2;C]
p.Gly358ValfsTer28
-
pathogenic
g.74167796C>G
g.72408038C>G
NM_006077.3:c.1078-1G>C
-
MICU1_000012
-
PubMed: Logan 2014
,
OMIM:var0001
-
rs754639936
Germline
yes
-
-
-
-
Johan den Dunnen
+/.
10i
c.1072-1G>C
r.spl
p.?
-
pathogenic
g.74167796C>G
g.72408038C>G
NM_006077.3:c.1078-1G>C
-
MICU1_000012
-
PubMed: Logan 2014
,
OMIM:var0001
-
rs754639936
Germline
yes
-
-
-
-
Johan den Dunnen
+/.
10i
c.1072-1G>C
r.spl
p.?
-
pathogenic
g.74167796C>G
g.72408038C>G
NM_006077.3:c.1078-1G>C
-
MICU1_000012
exome sequencing
PubMed: Logan 2014
,
OMIM:var0001
-
rs754639936
Germline
yes
-
-
-
-
Johan den Dunnen
+/.
10i
c.1072-1G>C
r.spl
p.?
-
pathogenic
g.74167796C>G
g.72408038C>G
NM_006077.3:c.1078-1G>C
-
MICU1_000012
exome sequencing
PubMed: Logan 2014
,
OMIM:var0001
-
rs754639936
Germline
yes
-
-
-
-
Johan den Dunnen
+/.
10i
c.1072-1G>C
r.spl
p.?
-
pathogenic
g.74167796C>G
g.72408038C>G
NM_006077.3:c.1078-1G>C
-
MICU1_000012
-
PubMed: Logan 2014
,
OMIM:var0001
-
rs754639936
Germline
yes
-
-
-
-
Johan den Dunnen
+?/.
10i
c.1072-1G>C
r.spl
p.?
ACMG
pathogenic
g.74167796C>G
g.72408038C>G
-
-
MICU1_000012
-
-
-
rs754639936
Germline
-
-
-
-
-
Gautham Arunachal
+/.
-
c.1072-1G>C
r.spl
p.?
-
pathogenic (recessive)
g.74167796C>G
g.72408038C>G
NM_006077:c.1078-1G>C
-
MICU1_000012
-
PubMed: Fevga 2022
,
Journal: Fevga 2022
-
rs754639936
Germline
-
-
-
-
-
Johan den Dunnen
+/.
-
c.1072-1G>C
r.spl
p.?
-
pathogenic (recessive)
g.74167796C>G
g.72408038C>G
-
-
MICU1_000012
-
PubMed: Mukherjee 2023
,
PubMed: Mukherjee 2023
-
rs754639936
Germline
-
-
-
-
-
Johan den Dunnen
+?/.
-
c.1226C>G
r.(?)
p.(Ser409Ter)
-
likely pathogenic (recessive)
g.74135585G>C
g.72375827G>C
-
-
MICU1_000034
-
PubMed: Beheshti 2025
,
Journal: Beheshti 2025
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
-?/.
-
c.1270+9G>A
r.(?)
p.(=)
-
likely benign
g.74135532C>T
g.72375774C>T
MICU1(NM_001195518.2):c.1270+9G>A
-
MICU1_000032
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
+/.
-
c.1289del
r.(1289del)
p.(Asn430IlefsTer8)
ACMG
pathogenic (recessive)
g.74128096del
g.72368338del
NM_006077.3:1295delA
-
MICU1_000036
ACMG PVS1, PM2, PM4, PP3, PP4
PubMed: Mojbafan 2020
,
Journal: Mojbafan 2020
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
+/.
-
c.1289del
r.(1289del)
p.(Asn430IlefsTer8)
-
pathogenic (recessive)
g.74128096del
g.72368338del
-
-
MICU1_000036
-
PubMed: Mojbafan 2020
,
Journal: Mojbafan 2020
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
+?/.
-
c.1312A>T
r.(?)
p.(Lys438Ter)
-
likely pathogenic
g.74128072T>A
g.72368314T>A
-
-
MICU1_000023
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Nijmegen
?/.
-
c.1319G>A
r.(?)
p.(Arg440Gln)
-
VUS
g.74128065C>T
g.72368307C>T
MICU1(NM_001195518.2):c.1319G>A (p.(Arg440Gln))
-
MICU1_000030
VKGL data sharing initiative Nederland
-
-
-
CLASSIFICATION record
-
-
-
-
-
VKGL-NL_Leiden
+/.
-
c.1372C>T
r.(?)
p.(Gln458Ter)
ACMG
VUS
g.74128012G>A
g.72368254G>A
-
-
MICU1_000048
ACMG PVS1_Moderate, PM2_Supporting, MP3
Journal: Li 2025
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
+/.
-
c.1372C>T
r.(?)
p.(Gln458Ter)
ACMG
VUS
g.74128012G>A
g.72368254G>A
-
-
MICU1_000048
ACMG PVS1_Moderate, PM2_Supporting, MP3
Journal: Li 2025
-
-
Germline
yes
-
-
-
-
Johan den Dunnen
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