Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003759034 | SCV001388929 | uncertain significance | Renal cell carcinoma | 2023-07-28 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with MET-related conditions. This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1118 of the MET protein (p.Asn1118Ser). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 946270). 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. 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 | RCV002322056 | SCV002606161 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-09-16 | criteria provided, single submitter | clinical testing | The p.N1118S variant (also known as c.3353A>G), located in coding exon 15 of the MET gene, results from an A to G substitution at nucleotide position 3353. The asparagine at codon 1118 is replaced by serine, an amino acid with highly 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. |