ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1957A>G (p.Arg653Gly)

dbSNP: rs1598573489
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802735 SCV000942578 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2018-09-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with DSC2-related disease. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glycine at codon 653 of the DSC2 protein (p.Arg653Gly). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and glycine.

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