ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.1042T>G (p.Phe348Val)

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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 RCV002402971 SCV002706654 uncertain significance Hereditary pancreatitis 2023-03-26 criteria provided, single submitter clinical testing The p.F348V variant (also known as c.1042T>G), located in coding exon 9 of the CPA1 gene, results from a T to G substitution at nucleotide position 1042. The phenylalanine at codon 348 is replaced by valine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. 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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