Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002040748 | SCV002300614 | uncertain significance | Renal cell carcinoma | 2020-12-20 | 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 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: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with MET-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with cysteine at codon 1215 of the MET protein (p.Ser1215Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine. |
Ambry Genetics | RCV004641883 | SCV005137384 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-05-10 | criteria provided, single submitter | clinical testing | The p.S1215C variant (also known as c.3643A>T), located in coding exon 17 of the MET gene, results from an A to T substitution at nucleotide position 3643. The serine at codon 1215 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |