ClinVar Miner

Submissions for variant NM_005458.8(GABBR2):c.1474G>A (p.Gly492Arg)

dbSNP: rs1184139603
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001733263 SCV001981893 uncertain significance not provided 2021-09-16 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect and suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV001882801 SCV002263843 uncertain significance Epileptic encephalopathy 2023-08-10 criteria provided, single submitter clinical testing 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 GABBR2 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. ClinVar contains an entry for this variant (Variation ID: 1301182). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 492 of the GABBR2 protein (p.Gly492Arg). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with GABBR2-related conditions.

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