ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.86G>T (p.Arg29Leu)

dbSNP: rs772024986
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
Mayo Clinic Laboratories, Mayo Clinic RCV001508849 SCV001715260 uncertain significance not provided 2020-02-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV003382621 SCV004088664 uncertain significance Hereditary pancreatitis 2023-07-29 criteria provided, single submitter clinical testing The p.R29L variant (also known as c.86G>T), located in coding exon 2 of the CTRC gene, results from a G to T substitution at nucleotide position 86. The arginine at codon 29 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious 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.