ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.178G>A (p.Gly60Ser)

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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 RCV003216496 SCV003911955 uncertain significance Hereditary pancreatitis 2023-01-11 criteria provided, single submitter clinical testing The p.G60S variant (also known as c.178G>A), located in coding exon 3 of the CPA1 gene, results from a G to A substitution at nucleotide position 178. The glycine at codon 60 is replaced by serine, 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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