ClinVar Miner

Submissions for variant NM_001379610.1(SPINK1):c.215T>C (p.Leu72Pro)

dbSNP: rs749558779
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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 RCV001218616 SCV001390504 uncertain significance Hereditary pancreatitis 2019-04-10 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SPINK1-related conditions. This variant is present in population databases (rs749558779, ExAC 0.002%). This sequence change replaces leucine with proline at codon 72 of the SPINK1 protein (p.Leu72Pro). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and proline.
Ambry Genetics RCV001218616 SCV002724661 uncertain significance Hereditary pancreatitis 2024-01-11 criteria provided, single submitter clinical testing The p.L72P variant (also known as c.215T>C), located in coding exon 4 of the SPINK1 gene, results from a T to C substitution at nucleotide position 215. The leucine at codon 72 is replaced by proline, 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.

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