ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.940G>A (p.Gly314Arg)

dbSNP: rs551812289
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
Invitae RCV001229522 SCV001401969 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2023-06-27 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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. ClinVar contains an entry for this variant (Variation ID: 956670). This variant has not been reported in the literature in individuals affected with PKP2-related conditions. This variant is present in population databases (rs551812289, gnomAD 0.02%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 314 of the PKP2 protein (p.Gly314Arg).
Color Diagnostics, LLC DBA Color Health RCV001523994 SCV001733741 uncertain significance Cardiomyopathy 2023-04-07 criteria provided, single submitter clinical testing This missense variant replaces glycine with arginine at codon 314 of the PKP2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in two unrelated individuals affected with dilated cardiomyopathy (PMID: 29386531, 34924461). One of these individuals also carried a pathogenic variant in the PLN gene, which could explain the observed phenotype (PMID: 34924461). This variant has also been identified in 13/250972 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV004004832 SCV004846461 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2024-02-05 criteria provided, single submitter clinical testing This missense variant replaces glycine with arginine at codon 314 of the PKP2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in two unrelated individuals affected with dilated cardiomyopathy (PMID: 29386531, 34924461). One of these individuals also carried a pathogenic variant in the PLN gene, which could explain the observed phenotype (PMID: 34924461). This variant has also been identified in 13/250972 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is 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.