ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.637T>G (p.Leu213Val)

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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 RCV004610926 SCV005111630 uncertain significance Hereditary pancreatitis 2024-05-17 criteria provided, single submitter clinical testing The p.L213V variant (also known as c.637T>G), located in coding exon 6 of the CPA1 gene, results from a T to G substitution at nucleotide position 637. The leucine at codon 213 is replaced by valine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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