ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.674C>T (p.Ser225Leu)

gnomAD frequency: 0.00001  dbSNP: rs782685734
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000645208 SCV000766950 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-11-01 criteria provided, single submitter clinical testing This variant is present in population databases (rs782685734, gnomAD 0.007%). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 536631). This missense change has been observed in individual(s) with arrhythmogenic right ventricular cardiomyopathy (PMID: 20864495). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 225 of the JUP protein (p.Ser225Leu).
GeneDx RCV001559819 SCV001782120 uncertain significance not provided 2019-10-02 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 31402444, 20864495, 27037756, 23911551)

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.