ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1328T>C (p.Leu443Pro)

dbSNP: rs1361995693
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 RCV002385848 SCV002693027 uncertain significance Cardiovascular phenotype 2020-04-29 criteria provided, single submitter clinical testing The p.L443P variant (also known as c.1328T>C), located in coding exon 4 of the JPH2 gene, results from a T to C substitution at nucleotide position 1328. The leucine at codon 443 is replaced by proline, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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.