ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.740T>C (p.Leu247Pro)

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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 RCV002384926 SCV002673987 uncertain significance Hereditary pancreatitis 2022-06-15 criteria provided, single submitter clinical testing The p.L247P variant (also known as c.740T>C), located in coding exon 7 of the CPA1 gene, results from a T to C substitution at nucleotide position 740. The leucine at codon 247 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. 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.

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