Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001305169 | SCV001494492 | uncertain significance | Gastrointestinal stromal tumor | 2020-08-25 | 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PDGFRA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with serine at codon 1053 of the PDGFRA protein (p.Gly1053Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. |
| Ambry Genetics | RCV003166731 | SCV003863326 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-01-05 | criteria provided, single submitter | clinical testing | The p.G1053S variant (also known as c.3157G>A), located in coding exon 22 of the PDGFRA gene, results from a G to A substitution at nucleotide position 3157. The glycine at codon 1053 is replaced by serine, an amino acid with similar 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. |