ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2880C>G (p.Ser960Arg) (rs374807974)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181192 SCV000233470 likely benign not specified 2014-03-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Health, Inc RCV001189657 SCV001356988 uncertain significance Cardiomyopathy 2019-10-30 criteria provided, single submitter clinical testing
Invitae RCV001373740 SCV001570472 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 10 2020-08-27 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 960 of the DSG2 protein (p.Ser960Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. This variant is present in population databases (rs374807974, ExAC 0.01%). This variant has not been reported in the literature in individuals with DSG2-related conditions. ClinVar contains an entry for this variant (Variation ID: 199793). 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. 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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