ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.1137C>G (p.Phe379Leu)

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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 RCV004610913 SCV005111616 uncertain significance Hereditary pancreatitis 2024-03-30 criteria provided, single submitter clinical testing The p.F379L variant (also known as c.1137C>G), located in coding exon 10 of the CPA1 gene, results from a C to G substitution at nucleotide position 1137. The phenylalanine at codon 379 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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