ClinVar Miner

Submissions for variant NM_001379610.1(SPINK1):c.19T>A (p.Phe7Ile)

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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 RCV002417099 SCV002720182 uncertain significance Hereditary pancreatitis 2021-07-10 criteria provided, single submitter clinical testing The p.F7I variant (also known as c.19T>A), located in coding exon 1 of the SPINK1 gene, results from a T to A substitution at nucleotide position 19. The phenylalanine at codon 7 is replaced by isoleucine, an amino acid with highly 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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