Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001063274 | SCV001228112 | uncertain significance | Gastrointestinal stromal tumor | 2019-02-14 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PDGFRA-related conditions. This sequence change replaces lysine with arginine at codon 702 of the PDGFRA protein (p.Lys702Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. |
| Ambry Genetics | RCV004659328 | SCV005151709 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-04-24 | criteria provided, single submitter | clinical testing | The p.K702R variant (also known as c.2105A>G), located in coding exon 14 of the PDGFRA gene, results from an A to G substitution at nucleotide position 2105. The lysine at codon 702 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |