ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.2881A>G (p.Ser961Gly)

dbSNP: rs750969626
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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 RCV001920997 SCV002196515 uncertain significance Brugada syndrome 2021-11-24 criteria provided, single submitter clinical testing This variant is present in population databases (rs750969626, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CACNA2D1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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. This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 961 of the CACNA2D1 protein (p.Ser961Gly).
Ambry Genetics RCV004043485 SCV005036732 uncertain significance Cardiovascular phenotype 2023-11-02 criteria provided, single submitter clinical testing The p.S961G variant (also known as c.2881A>G), located in coding exon 36 of the CACNA2D1 gene, results from an A to G substitution at nucleotide position 2881. The serine at codon 961 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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