ClinVar Miner

Submissions for variant NM_007272.3(CTRC):c.355C>T (p.Arg119Cys)

gnomAD frequency: 0.00007  dbSNP: rs768853400
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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 RCV001944273 SCV002209823 uncertain significance Hereditary pancreatitis 2025-01-07 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 119 of the CTRC protein (p.Arg119Cys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1433132). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Ambry Genetics RCV001944273 SCV002618822 uncertain significance Hereditary pancreatitis 2023-10-26 criteria provided, single submitter clinical testing The p.R119C variant (also known as c.355C>T), located in coding exon 4 of the CTRC gene, results from a C to T substitution at nucleotide position 355. The arginine at codon 119 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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