ClinVar Miner

Submissions for variant NC_000012.12:g.(?_32792634)_(32796308_?)dup

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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 RCV001031105 SCV001194411 likely pathogenic Arrhythmogenic right ventricular dysplasia 9 2019-12-11 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exons 12-13 of the PKP2 gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679) and may result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with PKP2-related conditions. Loss-of-function variants in PKP2 are known to be pathogenic (PMID: 15489853, 23911551). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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