ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter) (rs397517406)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039442 SCV000063126 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2017-06-19 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
GeneDx RCV000181144 SCV000233421 pathogenic not provided 2012-06-26 criteria provided, single submitter clinical testing p.Tyr282Stop (TAC>TAG): c.846 C>G in exon 7 of the DSC2 gene (NM_024422.3).The Tyr282Stop mutation in the DSC2 gene has not been reported as a disease-causing mutation or as a benign polymorphism, to our knowledge. Tyr282Stop is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense mutations in the DSC2 gene have been reported in association with ARVC (Van der Zwaag P et al., 2009). In addition, the NHLBI ESP Exome Variant Server reports Tyr282Stop was not observed in approximately 6,500 samples from individuals of European and African American backgrounds, indicating it is not a common variant in these populations. The variant is found in ARVC panel(s).

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