ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.697A>C (p.Asn233His)

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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 RCV002362541 SCV002664417 uncertain significance Hereditary pancreatitis 2022-06-13 criteria provided, single submitter clinical testing The p.N233H variant (also known as c.697A>C) is located in coding exon 7 of the CPA1 gene. The asparagine at codon 233 is replaced by histidine, an amino acid with similar properties. This change occurs in the first base pair of coding exon 7. 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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