Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001328506 | SCV000749643 | uncertain significance | Renal cell carcinoma | 2023-06-11 | 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 not expected to disrupt MET protein function. ClinVar contains an entry for this variant (Variation ID: 524860). 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 0.003%). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 874 of the MET protein (p.Asn874Lys). |
Mendelics | RCV000628737 | SCV000838262 | uncertain significance | Papillary renal cell carcinoma type 1 | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002438629 | SCV002745661 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-05-09 | criteria provided, single submitter | clinical testing | The p.N874K variant (also known as c.2622T>G), located in coding exon 10 of the MET gene, results from a T to G substitution at nucleotide position 2622. The asparagine at codon 874 is replaced by lysine, 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. |
Gene |
RCV004773049 | SCV005384941 | uncertain significance | not provided | 2024-02-20 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |