ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1760del (p.Val587fs) (rs397517009)

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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 RCV000038186 SCV000061853 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2010-12-14 criteria provided, single submitter clinical testing
GeneDx RCV000183792 SCV000236273 pathogenic not provided 2016-06-28 criteria provided, single submitter clinical testing The c.1760delT pathogenic variant in the PKP2 gene has not been reported previously as a disease-causing mutation or as a benign polymorphism to our knowledge. However, a similar pathogenic variant, c.1759delG has been published in one individual with probable ARVC (Tan B et al., 2010). Both c.1760delT and c.1759delG are predicted to alter the protein's amino acid sequence beginning at residue 587, leading to a premature stop codon 69 amino acids downstream. These pathogenic variants are expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Additionally, c.1760delT was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The variant is found in PKP2 panel(s).

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