ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.29A>G (p.Tyr10Cys)

gnomAD frequency: 0.00001  dbSNP: rs1181973282
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001190545 SCV001358050 likely benign Cardiomyopathy 2019-03-04 criteria provided, single submitter clinical testing
Invitae RCV001231103 SCV001403608 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 10 of the PKP2 protein (p.Tyr10Cys). The tyrosine residue is weakly conserved and there is a large physicochemical difference between tyrosine and cysteine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with PKP2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.