ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.2028G>A (p.Trp676Ter) (rs193922673)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000030361 SCV000053028 likely pathogenic Arrhythmogenic right ventricular cardiomyopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000656557 SCV000778599 pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 9 2018-01-23 criteria provided, single submitter research
GeneDx RCV000760353 SCV000890213 pathogenic not provided 2018-10-15 criteria provided, single submitter clinical testing The W676X variant in the PKP2 gene has been reported previously in a Dutch woman who fulfilled clinical diagnostic criteria for ARVC (van Tintelen et al., 2006). W676X is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the PKP2 gene have been reported in Human Gene Mutation Database in association with ARVC/D (Stenson et al., 2014). Furthermore, the W676X variant is not observed in large population cohorts (Lek et al., 2016).

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