Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001056176 | SCV001220601 | uncertain significance | Gastrointestinal stromal tumor | 2019-04-14 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This sequence change replaces lysine with arginine at codon 515 of the PDGFRA protein (p.Lys515Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PDGFRA-related conditions. |
| Ambry Genetics | RCV002400319 | SCV002707380 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-06-20 | criteria provided, single submitter | clinical testing | The p.K515R variant (also known as c.1544A>G), located in coding exon 9 of the PDGFRA gene, results from an A to G substitution at nucleotide position 1544. The lysine at codon 515 is replaced by arginine, an amino acid with highly 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. |