Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001997525 | SCV002230240 | uncertain significance | Renal cell carcinoma | 2023-01-07 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 1068 of the MET protein (p.Thr1068Ser). 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 not expected to disrupt MET protein function. ClinVar contains an entry for this variant (Variation ID: 1449384). This variant has not been reported in the literature in individuals affected with MET-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.06%). |
| Ambry Genetics | RCV002442935 | SCV002612308 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-09-25 | criteria provided, single submitter | clinical testing | The p.T1068S variant (also known as c.3203C>G), located in coding exon 14 of the MET gene, results from a C to G substitution at nucleotide position 3203. The threonine at codon 1068 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |