ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1831G>A (p.Gly611Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001314111 SCV001504627 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-10-06 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 611 of the DSG2 protein (p.Gly611Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs779056577, ExAC 0.009%). This variant has not been reported in the literature in individuals with DSG2-related conditions. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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