Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001874294 | SCV002123655 | uncertain significance | Gastrointestinal stromal tumor | 2021-06-15 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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). This sequence change replaces phenylalanine with cysteine at codon 917 of the KIT protein (p.Phe917Cys). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and cysteine. |
| Ambry Genetics | RCV004039768 | SCV005033081 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-03-02 | criteria provided, single submitter | clinical testing | The p.F917C variant (also known as c.2750T>G), located in coding exon 20 of the KIT gene, results from a T to G substitution at nucleotide position 2750. The phenylalanine at codon 917 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear. |