ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.256dup (p.Tyr86fs) (rs794729120)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183780 SCV000236261 pathogenic not provided 2014-05-28 criteria provided, single submitter clinical testing Although the c.256dupT variant in the PKP2 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon Tyrosine 86, changing it to a Leucine, and creating a premature stop codon at position 9 of the new reading frame, denoted p.Tyr86LeufsX9. This variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift variants in the PKP2 gene have been reported in association with ARVC. In summary, c.256dupT in the PKP2 gene is interpreted as a pathogenic variant.
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852449 SCV000995141 pathogenic Arrhythmogenic right ventricular cardiomyopathy 2019-03-25 criteria provided, single submitter clinical testing
Invitae RCV001221489 SCV001393537 pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 9 2019-07-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr86Leufs*9) 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). This variant has not been reported in the literature in individuals with PKP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 202010). Loss-of-function variants in PKP2 are known to be pathogenic (PMID: 15489853, 23911551). 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.