ClinVar Miner

Submissions for variant NM_001868.4(CPA1):c.1256A>G (p.Tyr419Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003216494 SCV003911953 uncertain significance Hereditary pancreatitis 2023-02-03 criteria provided, single submitter clinical testing The p.Y419C variant (also known as c.1256A>G), located in coding exon 10 of the CPA1 gene, results from an A to G substitution at nucleotide position 1256. The tyrosine at codon 419 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003779759 SCV004653398 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing 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 disruptive. This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 419 of the CPA1 protein (p.Tyr419Cys). This variant is not present in population databases (gnomAD no frequency). 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: 2496917). 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.

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