ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.238C>T (p.Arg80Trp)

dbSNP: rs779643710
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001204822 SCV001376045 uncertain significance Hereditary pancreatitis 2023-10-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 80 of the CTRC protein (p.Arg80Trp). This variant is present in population databases (rs779643710, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CTRC-related conditions. ClinVar contains an entry for this variant (Variation ID: 936094). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CTRC protein function. Experimental studies have shown that this missense change does not substantially affect CTRC function (PMID: 26013824). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001204822 SCV002731934 uncertain significance Hereditary pancreatitis 2023-08-30 criteria provided, single submitter clinical testing The p.R80W variant (also known as c.238C>T), located in coding exon 4 of the CTRC gene, results from a C to T substitution at nucleotide position 238. The arginine at codon 80 is replaced by tryptophan, an amino acid with dissimilar properties. In HEK293T cells, this variant demonstrated similar activity as compared to wild type (Szabó A et al. J. Biol. Chem., 2015 Jul;290:17282-92). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on available evidence to date, the clinical significance of this alteration remains unclear.

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