ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1177T>G (p.Tyr393Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002815341 SCV003205411 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2022-05-31 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with DSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 393 of the DSC2 protein (p.Tyr393Asp). 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. 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.

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