ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1465G>A (p.Gly489Arg) (rs111450489)

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
CSER _CC_NCGL, University of Washington RCV000148731 SCV000190466 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2014-06-01 criteria provided, single submitter research Low GERP score may suggest that this variant may belong in a lower pathogenicity class
Color RCV001180328 SCV001345231 uncertain significance Cardiomyopathy 2019-10-09 criteria provided, single submitter clinical testing
Invitae RCV001241077 SCV001414068 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 9 2019-08-06 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 489 of the PKP2 protein (p.Gly489Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs111450489, ExAC 0.03%). This variant has been observed in individuals affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 19880068, 19955750). ClinVar contains an entry for this variant (Variation ID: 161331). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.