ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.1207A>G (p.Thr403Ala)

gnomAD frequency: 0.00011  dbSNP: rs757868774
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992028 SCV001143991 uncertain significance not provided 2018-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001034052 SCV001197377 likely benign Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2025-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000992028 SCV001786479 likely benign not provided 2021-03-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002337049 SCV002635905 likely benign Inborn genetic diseases 2023-11-22 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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