ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.421G>C (p.Gly141Arg)

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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 RCV002297409 SCV002594688 uncertain significance Brugada syndrome 2022-08-20 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with CACNA2D1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 141 of the CACNA2D1 protein (p.Gly141Arg).
Ambry Genetics RCV004603195 SCV005099790 uncertain significance Cardiovascular phenotype 2024-06-21 criteria provided, single submitter clinical testing The p.G141R variant (also known as c.421G>C), located in coding exon 6 of the CACNA2D1 gene, results from a G to C substitution at nucleotide position 421. The glycine at codon 141 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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