ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.502C>G (p.Gln168Glu)

gnomAD frequency: 0.00002  dbSNP: rs1322804388
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 RCV001374093 SCV001570867 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-10-21 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 168 of the JUP protein (p.Gln168Glu). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with JUP-related conditions. 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. 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.
Ambry Genetics RCV002341815 SCV002641802 uncertain significance Cardiovascular phenotype 2022-03-23 criteria provided, single submitter clinical testing The p.Q168E variant (also known as c.502C>G), located in coding exon 3 of the JUP gene, results from a C to G substitution at nucleotide position 502. The glutamine at codon 168 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. 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.