ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.1186A>T (p.Ile396Phe)

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 RCV002338106 SCV002638047 uncertain significance Hereditary pancreatitis 2022-05-12 criteria provided, single submitter clinical testing The p.I396F variant (also known as c.1186A>T), located in coding exon 10 of the CPA1 gene, results from an A to T substitution at nucleotide position 1186. The isoleucine at codon 396 is replaced by phenylalanine, an amino acid with highly similar 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.