ClinVar Miner

Submissions for variant NM_198904.4(GABRG2):c.1358C>T (p.Ala453Val)

dbSNP: rs2113651364
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001785372 SCV002026391 uncertain significance Febrile seizures, familial, 8 2021-11-18 criteria provided, single submitter clinical testing Criteria applied: PM2_SUP,PP3; inherited from father
Labcorp Genetics (formerly Invitae), Labcorp RCV001868874 SCV002249616 uncertain significance Epilepsy, childhood absence 2; Febrile seizures, familial, 8 2021-02-19 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 445 of the GABRG2 protein (p.Ala445Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant has not been reported in the literature in individuals with GABRG2-related conditions. 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 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 RCV003992555 SCV004812163 uncertain significance Developmental and epileptic encephalopathy, 74 2021-11-18 criteria provided, single submitter clinical testing
GeneDx RCV004779138 SCV005391108 uncertain significance not provided 2024-04-04 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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