ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.486G>C (p.Met162Ile)

dbSNP: rs2140737836
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Total submissions: 3
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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 RCV001842246 SCV002102424 uncertain significance Epilepsy, childhood absence, susceptibility to, 5 2022-02-03 criteria provided, single submitter clinical testing This variant was identified as paternally inherited. Father is also affected Criteria applied: PM5, PM2_SUP, PP2, PP3
GeneDx RCV002291773 SCV002584145 uncertain significance not provided 2022-10-17 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
Labcorp Genetics (formerly Invitae), Labcorp RCV003772366 SCV004596598 uncertain significance Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2023-05-20 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 162 of the GABRB3 protein (p.Met162Ile). 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. 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 GABRB3 protein function. ClinVar contains an entry for this variant (Variation ID: 1342889). This variant has not been reported in the literature in individuals affected with GABRB3-related conditions. This variant is not present in population databases (gnomAD no frequency).

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