ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.833C>G (p.Pro278Arg)

gnomAD frequency: 0.00001  dbSNP: rs1226206290
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001307736 SCV001497161 uncertain significance Hypertrophic cardiomyopathy 2020-10-15 criteria provided, single submitter clinical testing 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. 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with JPH2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with arginine at codon 278 of the JPH2 protein (p.Pro278Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine.
PreventionGenetics, part of Exact Sciences RCV003399084 SCV004112483 uncertain significance JPH2-related disorder 2023-02-14 criteria provided, single submitter clinical testing The JPH2 c.833C>G variant is predicted to result in the amino acid substitution p.Pro278Arg. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.