ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.847G>A (p.Val283Met)

gnomAD frequency: 0.00001  dbSNP: rs1595440460
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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 RCV003768616 SCV004596087 uncertain significance Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2023-05-15 criteria provided, single submitter clinical testing 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: 689542). 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). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 283 of the GABRB3 protein (p.Val283Met).
Institute of Human Genetics, University of Wuerzburg RCV000850292 SCV000992467 uncertain significance Global developmental delay no assertion criteria provided clinical testing

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