ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.494G>T (p.Gly165Val)

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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 RCV004822632 SCV005567003 uncertain significance Hereditary pancreatitis 2024-11-22 criteria provided, single submitter clinical testing The p.G165V variant (also known as c.494G>T), located in coding exon 5 of the CPA1 gene, results from a G to T substitution at nucleotide position 494. The glycine at codon 165 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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