Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001203788 | SCV001374965 | pathogenic | Arrhythmogenic right ventricular dysplasia 9 | 2019-06-07 | criteria provided, single submitter | clinical testing | This variant has been observed in an individual affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 24125834). This sequence change creates a premature translational stop signal (p.Lys727*) in the PKP2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in PKP2 are known to be pathogenic (PMID: 15489853, 23911551). For these reasons, this variant has been classified as Pathogenic. |