ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.156T>C (p.Gly52=) (rs1129647)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117109 SCV000151269 benign not specified 2013-08-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000117109 SCV000305540 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328710 SCV000456005 benign Epilepsy, juvenile myoclonic 5 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000117109 SCV000702260 benign not specified 2016-09-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711719 SCV000842107 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715265 SCV000846093 benign Seizures 2016-01-08 criteria provided, single submitter clinical testing This alteration is classified as 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.
Invitae RCV001519747 SCV001728672 benign Idiopathic generalized epilepsy; Epilepsy, juvenile myoclonic 5; Epilepsy, childhood absence 4 2020-12-05 criteria provided, single submitter clinical testing

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