Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001938181 | SCV002188412 | uncertain significance | Renal cell carcinoma | 2021-07-07 | 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: "Probably 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 lysine with arginine at codon 1217 of the MET protein (p.Lys1217Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. |
| Ambry Genetics | RCV004043562 | SCV005038275 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-09-23 | criteria provided, single submitter | clinical testing | The p.K1217R variant (also known as c.3650A>G), located in coding exon 17 of the MET gene, results from an A to G substitution at nucleotide position 3650. The lysine at codon 1217 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |