ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.761G>C (p.Arg254Pro)

dbSNP: rs755811899
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001873412 SCV001189051 uncertain significance Hereditary pancreatitis 2024-07-17 criteria provided, single submitter clinical testing The p.R254P variant (also known as c.761G>C), located in coding exon 7 of the CTRC gene, results from a G to C substitution at nucleotide position 761. The arginine at codon 254 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001873412 SCV002278931 uncertain significance Hereditary pancreatitis 2022-03-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 254 of the CTRC protein (p.Arg254Pro). This variant is not present in population databases (gnomAD no frequency). 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: 827156). 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 expected to disrupt CTRC protein function. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV002261253 SCV002541886 uncertain significance not provided 2021-12-21 criteria provided, single submitter clinical testing

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