ClinVar Miner

Submissions for variant NM_001379610.1(SPINK1):c.71A>C (p.Asp24Ala)

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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 RCV002370829 SCV002672336 uncertain significance Hereditary pancreatitis 2021-12-18 criteria provided, single submitter clinical testing The p.D24A variant (also known as c.71A>C), located in coding exon 2 of the SPINK1 gene, results from an A to C substitution at nucleotide position 71. The aspartic acid at codon 24 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is conserved. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002370829 SCV003024575 uncertain significance Hereditary pancreatitis 2023-08-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SPINK1-related conditions. This variant is present in population databases (rs766778368, gnomAD 0.005%). This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 24 of the SPINK1 protein (p.Asp24Ala). 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. 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. ClinVar contains an entry for this variant (Variation ID: 1757635).

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