Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001061441 | SCV001226185 | uncertain significance | Gastrointestinal stromal tumor | 2023-04-28 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 856056). This variant has not been reported in the literature in individuals affected with KIT-related conditions. This variant is present in population databases (rs758665590, gnomAD 0.004%). This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 752 of the KIT protein (p.Val752Gly). |
| Ambry Genetics | RCV002445324 | SCV002733483 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-07-09 | criteria provided, single submitter | clinical testing | The p.V752G variant (also known as c.2255T>G), located in coding exon 16 of the KIT gene, results from a T to G substitution at nucleotide position 2255. The valine at codon 752 is replaced by glycine, 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. |
| Baylor Genetics | RCV001061441 | SCV004190397 | uncertain significance | Gastrointestinal stromal tumor | 2023-06-06 | criteria provided, single submitter | clinical testing |