ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.295T>C (p.Ser99Pro)

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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 RCV004517333 SCV005025618 uncertain significance Hereditary pancreatitis 2023-11-05 criteria provided, single submitter clinical testing The p.S99P variant (also known as c.295T>C), located in coding exon 4 of the CTRC gene, results from a T to C substitution at nucleotide position 295. The serine at codon 99 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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