ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.371C>A (p.Thr124Asn)

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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 RCV004822674 SCV005567055 uncertain significance Hereditary pancreatitis 2024-10-20 criteria provided, single submitter clinical testing The p.T124N variant (also known as c.371C>A), located in coding exon 3 of the CPA1 gene, results from a C to A substitution at nucleotide position 371. The threonine at codon 124 is replaced by asparagine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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