ClinVar Miner

Submissions for variant NC_000012.11:g.(?_33021841)_(33022016_?)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 RCV001951359 SCV002238046 pathogenic Arrhythmogenic right ventricular dysplasia 9 2024-01-18 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 4 of the PKP2 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in PKP2 are known to be pathogenic (PMID: 15489853, 23911551). A similar copy number variant has been observed in individual(s) with arrythmogenic cardiomyopathy (PMID: 29038103). For these reasons, this variant has been classified as Pathogenic.

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