ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.943-1G>A (rs796756333)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617404 SCV000736954 pathogenic Cardiovascular phenotype 2017-11-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000601124 SCV000744765 pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 11 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000601124 SCV000733778 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 11 no assertion criteria provided clinical testing
GeneDx RCV000484445 SCV000567827 likely pathogenic not provided 2017-11-08 criteria provided, single submitter clinical testing The c.943-1 G>A likely pathogenic variant in the DSC2 gene has been reported in one patient with ARVC who also harbors an unclassified variant in the DSP gene (Cox et al., 2011). This variant destroys the canonical splice acceptor site in intron 7 and is predicted to cause abnormal gene splicing. The variant is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Other splice site variants in the DSC2 gene have been reported in the Human Gene Mutation Database in association with ARVC (Stenson et al., 2014). Furthermore, the c.943-1 G>A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). However, this variant lacks observation in a significant number of affected individuals, segregation data, and functional evidence, which would further clarify its pathogenicity.
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000601124 SCV000743495 pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 11 2017-02-23 criteria provided, single submitter clinical testing

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