ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.372A>T (p.Arg124Ser)

gnomAD frequency: 0.00001  dbSNP: rs754884716
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233058 SCV001405636 uncertain significance Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 124 of the GABRG2 protein (p.Arg124Ser). This variant is present in population databases (rs754884716, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with GABRG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 959670). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GABRG2 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Institute of Human Genetics, University of Leipzig Medical Center RCV001253715 SCV001429566 uncertain significance Epilepsy, childhood absence 2 2016-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003373067 SCV004093275 likely benign Inborn genetic diseases 2023-08-21 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.

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