ClinVar Miner

Submissions for variant NM_001379610.1(SPINK1):c.36_38delinsCGT (p.Leu12_Ala13delinsPheVal)

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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 RCV002455200 SCV002615038 uncertain significance Hereditary pancreatitis 2024-08-20 criteria provided, single submitter clinical testing The c.36_38delGGCinsCGT variant (also known as p.L12_A13delinsFV), located in coding exon 1 of the SPINK1 gene, results from an in-frame deletion of GGC and insertion of CGT at nucleotide positions 36 to 38. This results in the substitution of leucine and alanine residues for a phenylalanine and valine residue at codon 12 and 13. This amino acid region is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Based on the available evidence, the clinical significance of this variant remains unclear.

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