ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.783G>T (p.Trp261Cys)

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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 RCV002412169 SCV002671393 uncertain significance Hereditary pancreatitis 2024-02-22 criteria provided, single submitter clinical testing The p.W261C variant (also known as c.783G>T), located in coding exon 7 of the CTRC gene, results from a G to T substitution at nucleotide position 783. The tryptophan at codon 261 is replaced by cysteine, 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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