ClinVar Miner

Submissions for variant NM_001379610.1(SPINK1):c.109A>C (p.Asn37His)

gnomAD frequency: 0.00001  dbSNP: rs761739859
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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 RCV000546985 SCV000630752 uncertain significance Hereditary pancreatitis 2022-08-18 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 459188). This variant has not been reported in the literature in individuals affected with SPINK1-related conditions. This variant is present in population databases (rs761739859, gnomAD 0.01%). This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 37 of the SPINK1 protein (p.Asn37His).
Ambry Genetics RCV000546985 SCV002736054 uncertain significance Hereditary pancreatitis 2023-12-21 criteria provided, single submitter clinical testing The p.N37H variant (also known as c.109A>C), located in coding exon 3 of the SPINK1 gene, results from an A to C substitution at nucleotide position 109. The asparagine at codon 37 is replaced by histidine, 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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