Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001998095 | SCV002252042 | uncertain significance | Gastrointestinal stromal tumor | 2021-07-15 | 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is present in population databases (rs749024557, ExAC 0.006%). This sequence change replaces isoleucine with valine at codon 107 of the KIT protein (p.Ile107Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. |
| Ambry Genetics | RCV002324417 | SCV002610817 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-05-15 | criteria provided, single submitter | clinical testing | The p.I107V variant (also known as c.319A>G), located in coding exon 2 of the KIT gene, results from an A to G substitution at nucleotide position 319. The isoleucine at codon 107 is replaced by valine, 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. |