Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001242560 | SCV001415655 | uncertain significance | Gastrointestinal stromal tumor | 2021-01-30 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with isoleucine at codon 278 of the KIT protein (p.Ser278Ile). The serine residue is moderately conserved and there is a large physicochemical difference between serine and isoleucine. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with KIT-related conditions. This variant is not present in population databases (ExAC no frequency). |
| Ambry Genetics | RCV002436952 | SCV002677175 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-10-27 | criteria provided, single submitter | clinical testing | The p.S278I variant (also known as c.833G>T), located in coding exon 5 of the KIT gene, results from a G to T substitution at nucleotide position 833. The serine at codon 278 is replaced by isoleucine, an amino acid with dissimilar 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. |