Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001952029 | SCV002192323 | uncertain significance | Gastrointestinal stromal tumor | 2021-12-15 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 529 of the KIT protein (p.Phe529Ser). This variant is not present in population databases (gnomAD no frequency). 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: "Benign"; Align-GVGD: "Class C55"). This variant has not been reported in the literature in individuals affected with KIT-related conditions. |
| Ambry Genetics | RCV003303392 | SCV004000279 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-05-18 | criteria provided, single submitter | clinical testing | The p.F529S variant (also known as c.1586T>C), located in coding exon 10 of the KIT gene, results from a T to C substitution at nucleotide position 1586. The phenylalanine at codon 529 is replaced by serine, an amino acid with highly 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. |