Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000814006 | SCV000954394 | uncertain significance | Gastrointestinal stromal tumor | 2023-05-26 | 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 657410). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is present in population databases (rs770727656, gnomAD 0.01%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 43 of the KIT protein (p.Lys43Glu). |
| Ambry Genetics | RCV002381818 | SCV002694915 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-26 | criteria provided, single submitter | clinical testing | The p.K43E variant (also known as c.127A>G), located in coding exon 2 of the KIT gene, results from an A to G substitution at nucleotide position 127. The lysine at codon 43 is replaced by glutamic acid, an amino acid with 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. |