Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002041208 | SCV002315764 | uncertain significance | Hereditary pancreatitis | 2022-08-16 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 1517914). This variant has not been reported in the literature in individuals affected with CTRC-related conditions. This variant is present in population databases (rs78247007, gnomAD 0.006%). This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 49 of the CTRC protein (p.Tyr49His). |
| Ambry Genetics | RCV002041208 | SCV002701942 | uncertain significance | Hereditary pancreatitis | 2023-07-15 | criteria provided, single submitter | clinical testing | The p.Y49H variant (also known as c.145T>C), located in coding exon 3 of the CTRC gene, results from a T to C substitution at nucleotide position 145. The tyrosine at codon 49 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |