Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001224423 | SCV001396615 | uncertain significance | Renal cell carcinoma | 2019-05-20 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with MET-related conditions. This variant is present in population databases (rs765441927, ExAC 0.002%). This sequence change replaces asparagine with serine at codon 922 of the MET protein (p.Asn922Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). |
Ambry Genetics | RCV003163751 | SCV003867854 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-12-07 | criteria provided, single submitter | clinical testing | The p.N922S variant (also known as c.2765A>G), located in coding exon 11 of the MET gene, results from an A to G substitution at nucleotide position 2765. The asparagine at codon 922 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. |