ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.595G>A (p.Asp199Asn)

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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 RCV003301395 SCV003996331 uncertain significance Hereditary pancreatitis 2023-06-08 criteria provided, single submitter clinical testing The p.D199N variant (also known as c.595G>A), located in coding exon 6 of the CPA1 gene, results from a G to A substitution at nucleotide position 595. The aspartic acid at codon 199 is replaced by asparagine, an amino acid with highly 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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