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

gnomAD frequency: 0.23538  dbSNP: rs1129647

Total submissions: 10

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, part of Exact Sciences	RCV000117109	SCV000305540	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000328710	SCV000456005	benign	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 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.
Eurofins Ntd Llc (ga)	RCV000117109	SCV000702260	benign	not specified	2016-09-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711719	SCV000842107	benign	not provided	2018-05-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312110	SCV000846093	benign	Inborn genetic diseases	2016-01-08	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001519747	SCV001728672	benign	Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701668	SCV001933698	benign	Developmental and epileptic encephalopathy, 19	2021-08-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000711719	SCV001945797	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000117109	SCV005087695	benign	not specified	2024-07-15	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 43% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 40. Only high quality variants are reported.