ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1634A>G (p.Tyr545Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814739 SCV000955161 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 11 2018-12-17 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 545 of the DSC2 protein (p.Tyr545Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs776917359, ExAC 0.01%). This variant has been observed in an individual affected with dilated cardiomyopathy (PMID: 25163546). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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