ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.285C>T (p.Gly95=)

gnomAD frequency: 0.00001  dbSNP: rs1555605900
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 RCV001215429 SCV001387174 uncertain significance Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-03-26 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. ClinVar contains an entry for this variant (Variation ID: 944919). This variant has not been reported in the literature in individuals affected with JUP-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change affects codon 95 of the JUP mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the JUP protein.
Ambry Genetics RCV002436825 SCV002748213 uncertain significance Cardiovascular phenotype 2022-08-25 criteria provided, single submitter clinical testing The c.285C>T variant (also known as p.G95G), located in coding exon 2 of the JUP gene, results from a C to T substitution at nucleotide position 285. This nucleotide substitution does not change the glycine at codon 95. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis 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.