ClinVar Miner

Submissions for variant NM_001379610.1(SPINK1):c.47G>T (p.Ser16Ile)

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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 RCV003297492 SCV004001879 uncertain significance Hereditary pancreatitis 2023-04-07 criteria provided, single submitter clinical testing The p.S16I variant (also known as c.47G>T), located in coding exon 1 of the SPINK1 gene, results from a G to T substitution at nucleotide position 47. The serine at codon 16 is replaced by isoleucine, 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.

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