ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.958A>G (p.Thr320Ala)

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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 RCV002385242 SCV002694920 uncertain significance Hereditary pancreatitis 2024-08-22 criteria provided, single submitter clinical testing The p.T320A variant (also known as c.958A>G), located in coding exon 8 of the CPA1 gene, results from an A to G substitution at nucleotide position 958. The threonine at codon 320 is replaced by alanine, 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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