ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1434dup (p.Ala479fs)

dbSNP: rs1565586921
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704429 SCV000833378 pathogenic Arrhythmogenic right ventricular dysplasia 9 2018-08-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PKP2 are known to be pathogenic (PMID: 15489853, 23911551). This variant has not been reported in the literature in individuals with PKP2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala523Serfs*18) in the PKP2 gene. It is expected to result in an absent or disrupted protein product.

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