ClinVar Miner

Submissions for variant NM_001379610.1(SPINK1):c.110A>T (p.Asn37Ile)

dbSNP: rs200142833
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002320221 SCV001178394 uncertain significance Hereditary pancreatitis 2019-10-17 criteria provided, single submitter clinical testing The p.N37I variant (also known as c.110A>T), located in coding exon 3 of the SPINK1 gene, results from an A to T substitution at nucleotide position 110. The asparagine at codon 37 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. 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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