Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000696644 | SCV000825212 | uncertain significance | Gastrointestinal stromal tumor | 2023-05-15 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with KIT-related conditions. 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: 574653). This variant is present in population databases (rs56225530, gnomAD 0.01%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 488 of the KIT protein (p.Thr488Met). |
| Ambry Genetics | RCV002388270 | SCV002698779 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-08-21 | criteria provided, single submitter | clinical testing | The p.T488M variant (also known as c.1463C>T), located in coding exon 9 of the KIT gene, results from a C to T substitution at nucleotide position 1463. The threonine at codon 488 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV000696644 | SCV005059861 | uncertain significance | Gastrointestinal stromal tumor | 2023-11-27 | criteria provided, single submitter | clinical testing |