ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1292T>A (p.Leu431Ter) (rs143397927)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254703 SCV000322492 likely pathogenic not provided 2017-10-17 criteria provided, single submitter clinical testing The L431X variant in the PKP2 gene has not been reported as a pathogenic variant or as a benign variant to our knowledge. L431X 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 HGMD in association with ARVC (Stenson et al., 2014). Furthermore, the L431X pathogenic variant 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.

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