ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.1356T>C (p.Tyr452=)

gnomAD frequency: 0.00009  dbSNP: rs762386331
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001478514 SCV001682785 likely benign Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384775 SCV002693086 likely benign Inborn genetic diseases 2019-07-30 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 RCV003426137 SCV004157959 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing GABRG2: BP4, BP7
Revvity Omics, Revvity RCV003426137 SCV004237840 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing

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