Full data view for gene GCDH

Variant classification: please note that where there are several records of the same variant, classification of that variant
may differ between records depending on the reporting publication or the submitter's opinion. For the curator’s opinion on
the classification, please view the SUMMARY record or the concluded functional effect (value in column Effect after the /).
Information The variants shown are described using the NM_000159.3 transcript reference sequence.

35 entries on 1 page. Showing entries 1 - 35.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Paternal (confirmed) - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Busquets 2000 - - Germline - - - - - DNA ? - - GA1 9881681-Pat.1 PubMed: Christensen 1997, PubMed: Pineda 1998, PubMed: Busquets 2000 This patient was first described by Christensen 1997 (Fam3) and later again again by Busquets 2000 (Pat. 34); Family: one affected younger brother (9881681-Pat.2/ 10960496-Pat.35) M no Spain - - - - - 1 Svenja Wagner
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Paternal (confirmed) - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Busquets 2000 - - Germline - - - - - DNA ? - - GA1 9881681-Pat.2 PubMed: Christensen 1997, PubMed: Pineda 1998, PubMed: Busquets 2000 This patient was first described by Christensen 1997 (Fam 3) and later again by Busquets 2000 (Pat.35); Family: one affected older brother (9881681-Pat.1/ 10960496-Pat.34) M no Spain - - - - - 1 Svenja Wagner
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Unknown - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Viau 2012 - - Germline/De novo (untested) - - - - - DNA SEQ - - GA1 - PubMed: Viau 2012 - M ? United States Hispanic - - - - 1 Svenja Wagner
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Both (homozygous) - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Marti-Masso 2012 - - Germline - - - - - DNA SEQ - - GA1 - PubMed: Marti-Masso 2012 sister of 21912879-Pat.2 F no Spain - - - - - 1 Svenja Wagner
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Both (homozygous) - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Marti-Masso 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - GA1 - PubMed: Marti-Masso 2012 sister of 21912879-Pat.1 F no Spain - - - - - 1 Svenja Wagner
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Both (homozygous) - pathogenic (recessive) g.13008632G>A g.12897818G>A c.1234G>A - GCDH_000017 - PubMed: Busquets 2000 - - Germline/De novo (untested) - - - - - DNA SEQ, SSCA - - GA1 - PubMed: Busquets 2000 - ? ? Spain - - - - - 1 Svenja Wagner
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Unknown - pathogenic (recessive) g.13008632G>A g.12897818G>A c.1234G>A - GCDH_000017 - PubMed: Busquets 2000 - - Germline/De novo (untested) - - - - - DNA SEQ, SSCA - - GA1 - PubMed: Busquets 2000 - ? ? Spain - - - - - 1 Svenja Wagner
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Unknown - pathogenic (recessive) g.13008632G>A g.12897818G>A c.1234G>A - GCDH_000017 - PubMed: Busquets 2000 - - Germline/De novo (untested) - - - - - DNA SEQ, SSCA - - GA1 - PubMed: Busquets 2000 - ? ? Spain - - - - - 1 Svenja Wagner
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Unknown - pathogenic (recessive) g.13008632G>A g.12897818G>A c.1234G>A - GCDH_000017 - PubMed: Biery 1996 - - Germline/De novo (untested) - - - - - DNA SEQ, SSCA - - GA1 - PubMed: Busquets 2000 - ? ? Spain - - - - - 1 Svenja Wagner
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Unknown - pathogenic (recessive) g.13008632G>A g.12897818G>A c.1234G>A - GCDH_000017 - PubMed: Busquets 2000 - - Germline/De novo (untested) - - - - - DNA SEQ, SSCA - - GA1 10960496-Pat.33 PubMed: Busquets 2000 only one variant detected ? ? Spain - - - - - 1 Svenja Wagner
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Unknown - pathogenic (recessive) g.13008632G>A g.12897818G>A c.1234G>A - GCDH_000017 - PubMed: Busquets 2000 - - Germline/De novo (untested) - - - - - DNA SEQ, SSCA - - GA1 10960496-Pat.36 PubMed: Busquets 2000 - ? ? Spain - - - - - 1 Svenja Wagner
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Unknown - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Heringer 2010, PubMed: Boy 2018_2 - - Germline/De novo (untested) - - - - - ? ? - - GA1 21031586-Case 4 (PID 41) PubMed: Heringer 2010, PubMed: Boy 2018_2 This patient is described later again by Boy 2018_2 (Pat 11); Diagnosed by newborn screening M ? (Germany) - - - - - 1 Isabelle Rinke
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Parent #2 - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Del Rizzo 2015 - - Germline - - - - - ? ? - - GA1 26847429-Case report PubMed: Del Rizzo 2015, PubMed: Marigliano 2013 Additional disease: Diabetes mellitus type I; For further information on clinical presentation see Marigliano 2013 M ? (Italy) - - - - - 1 Isabelle Rinke
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Unknown - pathogenic (recessive) g.13008632G>A g.12897818G>A c.1306G>A - GCDH_000017 - PubMed: Gallagher 2005, PubMed: Schillaci 2016 - - Germline/De novo (untested) - - - - - RNA RT-PCR, SEQ - - GA1 16183314-Case report PubMed: Gallagher 2005, PubMed: Schillaci 2016 This Patient was also described by Schillaci 2016 (27397597-Pat.2); No newborn screening by tandem mass spectrometry at birth; One older brother (healthy) ? no United States Mexican - - - - 1 Isabelle Rinke
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Unknown - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Boy 2018 - - Germline/De novo (untested) - - - - - ? ? - - GA1 29665094-PID22 PubMed: Boy 2018 Information included in suppl. material; Diagnosed by newborn screening; Received maintenance and emergency treatment F ? (Germany) - - - - - 1 Isabelle Rinke
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Unknown - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Boy 2018 - - Germline/De novo (untested) - - - - - ? ? - - GA1 29665094-PID23 PubMed: Boy 2018 Information included in suppl. material; Diagnosed by newborn screening; Received maintenance and emergency treatment F ? (Germany) - - - - - 1 Isabelle Rinke
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Both (homozygous) - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Busquets 2000 - - Germline/De novo (untested) - - - - - DNA PCR, SEQ, SSCA blood or cultured fibroblasts - GA1 10960496-Pat.27 PubMed: Busquets 2000 This patient has been described before (either by Prats 1993 or Merinero 1995) ? ? Spain - - - - - 1 Isabelle Rinke
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Both (homozygous) - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Busquets 2000 - - Germline/De novo (untested) - - - - - DNA PCR, SEQ, SSCA blood or cultured fibroblasts - GA1 10960496-Pat.28 PubMed: Busquets 2000 This patient has been described before (either by Prats 1993 or Merinero 1995) ? ? Spain - - - - - 1 Isabelle Rinke
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Unknown ACMG pathogenic g.13008632G>A g.12897818G>A - - GCDH_000017 ACMG/ACGS: PS4_Moderate, PM3_Very Strong, PP4_Moderate, PP3_Moderate, PS3 (December 2023) - - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Unknown - pathogenic g.13008632G>A g.12897818G>A GCDH(NM_000159.4):c.1198G>A (p.V400M) - GCDH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Both (homozygous) - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Kurkina 2020 - - Germline/De novo (untested) - - - - - DNA PCR, SEQ - - GA1 Pat48 PubMed: Kurkina 2020 - F ? Russia - - - - not reported 1 Sabrina Oeser
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Both (homozygous) - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Schuurmans 2023 - - Germline/De novo (untested) - - - - - ? ? - - GA1 37020324-Patient number 405 PubMed: Schuurmans 2023 - F ? Spain - - - - - 1 Sabrina Oeser
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Unknown - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Schuurmans 2023 - - Germline/De novo (untested) - - - - - ? ? - - GA1 37020324-Patient number 404 PubMed: Schuurmans 2023 - ? ? Spain - - - - - 1 Sabrina Oeser
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Unknown - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Schuurmans 2023 - - Germline/De novo (untested) - - - - - ? ? - - GA1 37020324-Patient number 403 PubMed: Schuurmans 2023 - F ? Spain - - - - - 1 Sabrina Oeser
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Unknown - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Schuurmans 2023 - - Germline/De novo (untested) - - - - - ? ? - - GA1 37020324-Patient number 402 PubMed: Schuurmans 2023 - M ? Spain - - - - - 1 Sabrina Oeser
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Both (homozygous) - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Schuurmans 2023 - - Germline/De novo (untested) - - - - - ? ? - - GA1 37020324-Patient number 401 PubMed: Schuurmans 2023 - M - Spain - - - - - 1 Sabrina Oeser
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Unknown - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Schuurmans 2023 - - Germline/De novo (untested) - - - - - ? ? - - GA1 37020324-Patient number 400 PubMed: Schuurmans 2023 - F ? Spain - - - - - 1 Sabrina Oeser
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Both (homozygous) - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Schuurmans 2023 - - Germline/De novo (untested) - - - - - ? ? - - GA1 37020324-Patient number 399 PubMed: Schuurmans 2023 - F ? Spain - - - - - 1 Sabrina Oeser
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Unknown - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Schuurmans 2023 - - Germline/De novo (untested) - - - - - ? ? - - GA1 37020324-Patient number 398 PubMed: Schuurmans 2023 - F ? Spain - - - - - 1 Sabrina Oeser
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Unknown - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Schuurmans 2023 - - Germline/De novo (untested) ? - - - - ? ? - - GA1 37020324-Patient number 253 PubMed: Schuurmans 2023 - F ? Spain - - - - - 1 Sabrina Oeser
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Unknown - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Schuurmans 2023 - - Germline/De novo (untested) ? - - - - ? ? - - GA1 37020324-Patient number 249 PubMed: Schuurmans 2023 - M ? Spain - - - - - 1 Sabrina Oeser
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Unknown - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Schuurmans 2023 - - Germline/De novo (untested) ? - - - - ? ? - - GA1 37020324-Patient number 247 PubMed: Schuurmans 2023 - M ? Spain - - - - - 1 Sabrina Oeser
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Both (homozygous) - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Navarrete 2019 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat34 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Unknown - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Schuurmans 2023 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 37020324-Patient number 114 PubMed: Schuurmans 2023 - M - Spain - - - - - 1 Sabrina Oeser
+/+ 11 c.1198G>A r.(?) p.(Val400Met) Unknown - pathogenic (recessive) g.13008632G>A g.12897818G>A - - GCDH_000017 - PubMed: Schuurmans 2023 - - Germline/De novo (untested) - - - - - DNA ? - - GA1 37020324-Patient number 69 PubMed: Schuurmans 2023 - F - Spain - - - - - 1 Sabrina Oeser
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