ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.2797G>A (p.Val933Met)

gnomAD frequency: 0.00001  dbSNP: rs373055076
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811100 SCV000951348 uncertain significance Arrhythmogenic right ventricular dysplasia 10 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 933 of the DSG2 protein (p.Val933Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs373055076, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with DSG2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine 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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