ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.129G>T (p.Trp43Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289263 SCV002579884 uncertain significance Hereditary pancreatitis 2022-05-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002289263 SCV005104665 uncertain significance Hereditary pancreatitis 2024-04-24 criteria provided, single submitter clinical testing The p.W43C variant (also known as c.129G>T), located in coding exon 2 of the CTRC gene, results from a G to T substitution at nucleotide position 129. The tryptophan at codon 43 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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