ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.845C>T (p.Ser282Phe)

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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 RCV004610927 SCV005111631 uncertain significance Hereditary pancreatitis 2024-05-28 criteria provided, single submitter clinical testing The p.S282F variant (also known as c.845C>T), located in coding exon 8 of the CPA1 gene, results from a C to T substitution at nucleotide position 845. The serine at codon 282 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. 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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