ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.436G>T (p.Glu146Ter)

dbSNP: rs146581757
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617176 SCV000735540 uncertain significance Cardiovascular phenotype 2016-10-21 criteria provided, single submitter clinical testing The p.E146* variant (also known as c.436G>T), located in coding exon 2 of the JUP gene, results from a G to T substitution at nucleotide position 436. This changes the amino acid from a glutamic acid to a stop codon within coding exon 2. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of JUP has not been clearly established as a mechanism of disease for autosomal dominant ARVC. 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.