ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.980G>A (p.Gly327Glu) (rs759660796)

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
GeneDx RCV000441718 SCV000522923 uncertain significance not provided 2017-01-09 criteria provided, single submitter clinical testing The G327E variant of uncertain significance in the PKP2 gene has not been published as a pathogenic variant or been reported as a benign variant to our knowledge. This variant has not been observed at a significant frequency in large population cohorts (Lek et al., 2016; McVean et al., 2012; Exome Variant Server; Exome Aggregation Consortium). The G327E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Nevertheless, this substitution occurs at a position that is not conserved. Furthermore, in silico analysis predicts this variant likely does not alter the protein structure/function. Additionally, only one missense variant in a nearby residue (G328R) has been reported in the Human Gene Mutation Database in association with ARVC (Stenson et al., 2014).
Color RCV001187376 SCV001354150 uncertain significance Cardiomyopathy 2019-07-02 criteria provided, single submitter clinical testing

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.