ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=)

gnomAD frequency: 0.00066  dbSNP: rs41308303
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186631 SCV000168609 benign not specified 2013-08-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000724692 SCV000225245 uncertain significance not provided 2015-08-26 criteria provided, single submitter clinical testing
Invitae RCV001086584 SCV000645975 benign Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312564 SCV000847155 likely benign Inborn genetic diseases 2016-06-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000724692 SCV000892531 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing GABRA1: BP4, BP7, BS1
Illumina Laboratory Services, Illumina RCV001152028 SCV001313230 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 13 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000724692 SCV001744896 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000724692 SCV001970434 likely benign not provided no assertion criteria provided clinical testing

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