ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1576C>A (p.Arg526Ser)

dbSNP: rs782309611
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001980782 SCV002284187 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-07-21 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with serine at codon 526 of the JUP protein (p.Arg526Ser). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and serine.

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.