Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001979076 | SCV002222843 | uncertain significance | Hereditary pancreatitis | 2021-09-10 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with tyrosine at codon 260 of the CTRC protein (p.Asp260Tyr). The aspartic acid residue is moderately conserved and there is a large physicochemical difference between aspartic acid and tyrosine. 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. 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. This variant has not been reported in the literature in individuals affected with CTRC-related conditions. This variant is not present in population databases (ExAC no frequency). |
| Ambry Genetics | RCV001979076 | SCV002669059 | uncertain significance | Hereditary pancreatitis | 2022-10-12 | criteria provided, single submitter | clinical testing | The p.D260Y variant (also known as c.778G>T), located in coding exon 7 of the CTRC gene, results from a G to T substitution at nucleotide position 778. The aspartic acid at codon 260 is replaced by tyrosine, 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. |