ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.629T>A (p.Leu210His)

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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 RCV003305490 SCV003997571 uncertain significance Hereditary pancreatitis 2023-03-30 criteria provided, single submitter clinical testing The p.L210H variant (also known as c.629T>A), located in coding exon 6 of the CPA1 gene, results from a T to A substitution at nucleotide position 629. The leucine at codon 210 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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