ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.2146-?_2489+?del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000239935 SCV000299113 pathogenic Arrhythmogenic right ventricular dysplasia 9 2017-01-23 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 11-12 of the PKP2 gene. This is predicted to create 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, truncating variants in PKP2 are known to be pathogenic (PMID: 15489853). For these reasons, this variant has been classified as Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.