ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.881G>A (p.Arg294Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003112302 SCV003787009 uncertain significance Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2023-02-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 294 of the GABRB3 protein (p.Arg294Gln). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with epilepsy (PMID: 31164858). 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. 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.
GeneDx RCV003229117 SCV003926077 uncertain significance not provided 2022-11-22 criteria provided, single submitter clinical testing Reported as a variant of uncertain significance in a child with focal epilepsy and speech delay in published literature (Demos M et al., 2019); 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; This variant is associated with the following publications: (PMID: 31164858)

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