Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001909651 | SCV002178275 | uncertain significance | Renal cell carcinoma | 2021-08-03 | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with MET-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 694 of the MET protein (p.Gly694Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. |
Ambry Genetics | RCV004641766 | SCV005137354 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-04-25 | criteria provided, single submitter | clinical testing | The p.G694R variant (also known as c.2080G>A), located in coding exon 7 of the MET gene, results from a G to A substitution at nucleotide position 2080. The glycine at codon 694 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. 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. |