Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000539714 | SCV000630514 | uncertain significance | Gastrointestinal stromal tumor | 2021-06-17 | 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with KIT-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with methionine at codon 242 of the KIT protein (p.Val242Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. |
| Ambry Genetics | RCV002377028 | SCV002670256 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-11-08 | criteria provided, single submitter | clinical testing | The p.V242M variant (also known as c.724G>A), located in coding exon 4 of the KIT gene, results from a G to A substitution at nucleotide position 724. The valine at codon 242 is replaced by methionine, 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. |