ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2638G>A (p.Gly880Arg)

dbSNP: rs1986686862
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001526140 SCV001736436 uncertain significance Cardiomyopathy 2022-08-22 criteria provided, single submitter clinical testing This missense variant replaces glycine with arginine at codon 880 of the DSC2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae RCV001873690 SCV002194788 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 880 of the DSC2 protein (p.Gly880Arg). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1172326). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics RCV002458504 SCV002739687 uncertain significance Cardiovascular phenotype 2022-07-10 criteria provided, single submitter clinical testing The p.G880R variant (also known as c.2638G>A), located in coding exon 16 of the DSC2 gene, results from a G to A substitution at nucleotide position 2638. The glycine at codon 880 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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