Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002403027 | SCV002706692 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-17 | criteria provided, single submitter | clinical testing | The p.Q348L variant (also known as c.1043A>T), located in coding exon 1 of the MET gene, results from an A to T substitution at nucleotide position 1043. The glutamine at codon 348 is replaced by leucine, an amino acid with dissimilar 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. |
| Labcorp Genetics |
RCV003095299 | SCV003341311 | uncertain significance | Renal cell carcinoma | 2022-04-10 | 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 glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 348 of the MET protein (p.Gln348Leu). 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. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). |