ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,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 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 11 2020-11-15 criteria provided, single submitter clinical testing
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
Color Health, Inc RCV001180330 SCV001345234 uncertain significance Cardiomyopathy 2020-11-18 criteria provided, single submitter clinical testing This missense variant replaces serine with leucine at codon 824 of the DSC2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 20864495). This variant has also been identified in 29/282414 chromosomes (18/24954 African chromosomes) in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
CSER _CC_NCGL, University of Washington RCV000148469 SCV000190169 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2014-06-01 no assertion criteria provided research

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