ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.87G>A (p.Pro29=)

gnomAD frequency: 0.00001  dbSNP: rs374399356
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703641 SCV000520179 likely benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Invitae RCV001423271 SCV001625846 likely benign Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2023-12-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446673 SCV002682656 likely benign Inborn genetic diseases 2017-09-27 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 RCV001703641 SCV004157948 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing GABRA1: BP4, BP7

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