ClinVar Miner

Submissions for variant NM_001379610.1(SPINK1):c.68C>T (p.Ala23Val)

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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 RCV002378052 SCV002667498 uncertain significance Hereditary pancreatitis 2022-04-01 criteria provided, single submitter clinical testing The p.A23V variant (also known as c.68C>T), located in coding exon 2 of the SPINK1 gene, results from a C to T substitution at nucleotide position 68. The alanine at codon 23 is replaced by valine, an amino acid with similar 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 RCV002378052 SCV005813438 uncertain significance Hereditary pancreatitis 2024-02-01 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 23 of the SPINK1 protein (p.Ala23Val). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SPINK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1756060). 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. 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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