ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.350T>C (p.Phe117Ser)

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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 RCV002459206 SCV002614619 uncertain significance Hereditary pancreatitis 2022-09-11 criteria provided, single submitter clinical testing The p.F117S variant (also known as c.350T>C), located in coding exon 3 of the CPA1 gene, results from a T to C substitution at nucleotide position 350. The phenylalanine at codon 117 is replaced by serine, an amino acid with highly dissimilar 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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