ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.406G>A (p.Asp136Asn)

gnomAD frequency: 0.00001  dbSNP: rs782392706
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
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196952 SCV001367586 uncertain significance Naxos disease 2020-03-05 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3,PM5.
Invitae RCV001343964 SCV001537990 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-05-31 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 930937). This variant has not been reported in the literature in individuals affected with JUP-related conditions. This variant is present in population databases (rs782392706, gnomAD 0.005%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 136 of the JUP protein (p.Asp136Asn). 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.
Dept of Medical Biology, Uskudar University RCV003318396 SCV004022099 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: PM2, PP3

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.