ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1531_1540del (p.Ser511fs) (rs794729125)

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
GeneDx RCV000183788 SCV000236269 pathogenic not provided 2014-02-11 criteria provided, single submitter clinical testing c.1531_1540del10: p.Ser511AsnfsX6 (S511NfsX6) in exon 7 of the PKP2 gene. The normal sequence with the bases that are deleted in braces is: GTCA{TCTAATGACA}AACT. Although the c.1531_1540del10 mutation in the PKP2 gene has not been reported previously, this mutation causes a shift in reading frame starting at codon Serine 511, changing it to a Asparagine, and creating a premature stop codon at position 6 of the new reading frame. This mutation 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 mutations in the PKP2 gene have been reported in association with ARVC. The variant is found in PKP2 panel(s).

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.