ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.1204T>C (p.Tyr402His)

gnomAD frequency: 0.00004  dbSNP: rs185383468
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000646114 SCV000767871 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001560496 SCV001782922 likely benign not provided 2018-07-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24999380, 24865167)
Ambry Genetics RCV002343320 SCV002647439 benign Inborn genetic diseases 2019-05-03 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.
PreventionGenetics, part of Exact Sciences RCV003937948 SCV004749525 likely benign GABRB3-related disorder 2019-06-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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