Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001213810 | SCV001385460 | pathogenic | Arrhythmogenic right ventricular dysplasia 9 | 2020-02-05 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn805Thrfs*10) in the PKP2 gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with PKP2-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PKP2 are known to be pathogenic (PMID: 15489853, 23911551). |