ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.1145G>A (p.Arg382Gln)

gnomAD frequency: 0.00008  dbSNP: rs782284762
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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 RCV001317457 SCV001508121 uncertain significance not provided 2024-10-04 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 382 of the CPA1 protein (p.Arg382Gln). This variant is present in population databases (rs782284762, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with CPA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1018192). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CPA1 protein function. 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 RCV002456424 SCV002614060 uncertain significance Hereditary pancreatitis 2023-02-10 criteria provided, single submitter clinical testing The p.R382Q variant (also known as c.1145G>A), located in coding exon 10 of the CPA1 gene, results from a G to A substitution at nucleotide position 1145. The arginine at codon 382 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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