ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.33G>C (p.Leu11Phe)

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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 RCV002452054 SCV002617091 uncertain significance Hereditary pancreatitis 2021-12-25 criteria provided, single submitter clinical testing The p.L11F variant (also known as c.33G>C), located in coding exon 1 of the CTRC gene, results from a G to C substitution at nucleotide position 33. The leucine at codon 11 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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