ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.745C>T (p.Pro249Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002385152 SCV002671713 uncertain significance Hereditary pancreatitis 2024-11-23 criteria provided, single submitter clinical testing The p.P249S variant (also known as c.745C>T), located in coding exon 7 of the CTRC gene, results from a C to T substitution at nucleotide position 745. The proline at codon 249 is replaced by serine, an amino acid with 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.

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