ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.94G>A (p.Gly32Arg)

dbSNP: rs71651682
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Personalized Medicine, Children's Hospital Los Angeles RCV000735321 SCV000854475 uncertain significance Global developmental delay; Seizure criteria provided, single submitter clinical testing
GeneDx RCV001770039 SCV002004574 uncertain significance not provided 2023-12-02 criteria provided, single submitter clinical testing Reported in a family with epilepsy, but also seen in unaffected family members (PMID: 18514161); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 23934645, 19717338, 29390378, 26950270, 22765836, 20308251, 20352446, 22206818, 26645412, 30755392, 35383156, 22303015, 31435640, 18514161)
Labcorp Genetics (formerly Invitae), Labcorp RCV002513081 SCV003442720 uncertain significance Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2023-07-09 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 32 of the GABRB3 protein (p.Gly32Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of GABRB3-related conditions (PMID: 18514161; Invitae). ClinVar contains an entry for this variant (Variation ID: 16193). 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 GABRB3 protein function. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on GABRB3 function (PMID: 18514161, 22303015, 35383156). 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.
OMIM RCV000017577 SCV000037849 risk factor Epilepsy, childhood absence, susceptibility to, 5 2008-06-01 no assertion criteria provided literature only

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