ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2683G>A (p.Ala895Thr) (rs1060502988)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474033 SCV000551482 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 11 2016-04-09 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 895 of the DSC2 protein (p.Ala895Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a DSC2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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