Submissions for variant NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=)

gnomAD frequency: 0.00428  dbSNP: rs138259457

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079318	SCV000111188	benign	not specified	2013-07-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000079318	SCV000168611	benign	not specified	2013-01-08	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079746	SCV000558607	benign	Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4	2024-01-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316225	SCV000851204	benign	Inborn genetic diseases	2016-09-13	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.
Athena Diagnostics	RCV000464627	SCV001143974	benign	not provided	2019-04-19	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001152030	SCV001313232	uncertain significance	Epilepsy, idiopathic generalized, susceptibility to, 13	2018-01-12	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.
CeGaT Center for Human Genetics Tuebingen	RCV000464627	SCV002497369	benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	GABRA1: BP4, BP7, BS1, BS2
Genetic Services Laboratory, University of Chicago	RCV000079318	SCV000151268	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.