ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.64T>C (p.Phe22Leu)

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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 RCV003310922 SCV003996538 uncertain significance Hereditary pancreatitis 2023-03-22 criteria provided, single submitter clinical testing The p.F22L variant (also known as c.64T>C), located in coding exon 2 of the CTRC gene, results from a T to C substitution at nucleotide position 64. The phenylalanine at codon 22 is replaced by leucine, 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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