ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2068G>T (p.Val690Leu)

gnomAD frequency: 0.00001  dbSNP: rs768784624
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001342915 SCV001536867 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 690 of the DSC2 protein (p.Val690Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. This variant is present in population databases (rs768784624, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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