ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.224G>A (p.Cys75Tyr)

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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 RCV003213805 SCV003912853 uncertain significance Hereditary pancreatitis 2023-01-16 criteria provided, single submitter clinical testing The p.C75Y variant (also known as c.224G>A), located in coding exon 3 of the CTRC gene, results from a G to A substitution at nucleotide position 224. The cysteine at codon 75 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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