ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.524C>T (p.Ser175Leu)

gnomAD frequency: 0.00002  dbSNP: rs782435477
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001984791 SCV002207502 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 175 of the JUP protein (p.Ser175Leu). This variant is present in population databases (rs782435477, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with JUP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1435077). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV002334929 SCV002642501 uncertain significance Cardiovascular phenotype 2023-06-15 criteria provided, single submitter clinical testing The p.S175L variant (also known as c.524C>T), located in coding exon 3 of the JUP gene, results from a C to T substitution at nucleotide position 524. The serine at codon 175 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. 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.
Fulgent Genetics, Fulgent Genetics RCV001984791 SCV002790395 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-09-15 criteria provided, single submitter clinical testing

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.