Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003593551 | SCV004306757 | uncertain significance | Renal cell carcinoma | 2023-07-14 | 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. This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 803 of the MET protein (p.Asn803Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MET-related conditions. 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. |
Ambry Genetics | RCV004636780 | SCV005137351 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-04-05 | criteria provided, single submitter | clinical testing | The p.N803K variant (also known as c.2409C>A), located in coding exon 9 of the MET gene, results from a C to A substitution at nucleotide position 2409. The asparagine at codon 803 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. Based on the available evidence, the clinical significance of this variant remains unclear. |