ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1624G>A (p.Val542Ile)

gnomAD frequency: 0.00001  dbSNP: rs571375136
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
Invitae RCV001056236 SCV001220668 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-12-06 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. ClinVar contains an entry for this variant (Variation ID: 851774). This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is present in population databases (rs571375136, gnomAD 0.007%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 542 of the JUP protein (p.Val542Ile).
Ambry Genetics RCV002400321 SCV002708064 uncertain significance Cardiovascular phenotype 2022-03-22 criteria provided, single submitter clinical testing The p.V542I variant (also known as c.1624G>A), located in coding exon 8 of the JUP gene, results from a G to A substitution at nucleotide position 1624. The valine at codon 542 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.