Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032962 | SCV001196269 | pathogenic | Arrhythmogenic right ventricular dysplasia 9 | 2019-11-21 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 2 and 3 of the PKP2 gene. This creates 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, loss-of-function variants in PKP2 are known to be pathogenic (PMID: 15489853). For these reasons, this variant has been classified as Pathogenic. |