ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.421C>T (p.His141Tyr)

dbSNP: rs1584851048
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 RCV002319330 SCV001183770 uncertain significance Hereditary pancreatitis 2019-05-31 criteria provided, single submitter clinical testing The p.H141Y variant (also known as c.421C>T), located in coding exon 4 of the CPA1 gene, results from a C to T substitution at nucleotide position 421. The histidine at codon 141 is replaced by tyrosine, an amino acid with similar properties. This amino acid position is poorly 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.