ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.419C>G (p.Pro140Arg)

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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 RCV002327825 SCV002628600 uncertain significance Hereditary pancreatitis 2024-02-24 criteria provided, single submitter clinical testing The p.P140R variant (also known as c.419C>G), located in coding exon 4 of the CPA1 gene, results from a C to G substitution at nucleotide position 419. The proline at codon 140 is replaced by arginine, an amino acid with dissimilar 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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