ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.884T>C (p.Leu295Pro)

gnomAD frequency: 0.00001  dbSNP: rs1567815863
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 RCV001060976 SCV001225698 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2019-02-05 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with JUP-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 295 of the JUP protein (p.Leu295Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.
Ambry Genetics RCV002445322 SCV002682741 uncertain significance Cardiovascular phenotype 2021-11-09 criteria provided, single submitter clinical testing The p.L295P variant (also known as c.884T>C), located in coding exon 4 of the JUP gene, results from a T to C substitution at nucleotide position 884. The leucine at codon 295 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious 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.