Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000471071 | SCV000550096 | uncertain significance | Gastrointestinal stromal tumor | 2022-09-19 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 828 of the KIT protein (p.Asn828Asp). 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. 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: "Probably Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 409757). |
| Ambry Genetics | RCV003168816 | SCV003869072 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-02-12 | criteria provided, single submitter | clinical testing | The p.N828D variant (also known as c.2482A>G), located in coding exon 17 of the KIT gene, results from an A to G substitution at nucleotide position 2482. The asparagine at codon 828 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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. |