ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu) (rs143413607)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000148469 SCV000190169 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2014-06-01 no assertion criteria provided research
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000456802 SCV000891612 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 11 2017-12-30 criteria provided, single submitter curation
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000148469 SCV000297176 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2015-11-30 criteria provided, single submitter clinical testing
Invitae RCV000456802 SCV000551494 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 11 2016-05-22 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 824 of the DSC2 protein (p.Ser824Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs143413607, ExAC 0.05%). This variant has been reported in an individual affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 20864495). 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 C15"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been reported in both the population and affected individuals, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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