ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.2146-?_2489+?del

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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 RCV000239935 SCV000299113 pathogenic Arrhythmogenic right ventricular dysplasia 9 2017-01-23 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 11-12 of the PKP2 gene. This is predicted to create a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in PKP2 are known to be pathogenic (PMID: 15489853). For these reasons, this variant has been classified as Pathogenic.

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