ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.1251C>A (p.His417Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003725805 SCV004520054 uncertain significance not provided 2024-02-20 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 417 of the CPA1 protein (p.His417Gln). This variant is present in population databases (rs782603710, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CPA1-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004374097 SCV005018265 uncertain significance Hereditary pancreatitis 2023-09-19 criteria provided, single submitter clinical testing The p.H417Q variant (also known as c.1251C>A), located in coding exon 10 of the CPA1 gene, results from a C to A substitution at nucleotide position 1251. The histidine at codon 417 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well 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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