Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001232248 | SCV001404797 | uncertain significance | Gastrointestinal stromal tumor | 2022-07-22 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 958981). 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This variant is present in population databases (rs376497743, gnomAD 0.007%). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 144 of the PDGFRA protein (p.Asp144Tyr). |
| Ambry Genetics | RCV002327557 | SCV002630925 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-09-01 | criteria provided, single submitter | clinical testing | The p.D144Y variant (also known as c.430G>T), located in coding exon 3 of the PDGFRA gene, results from a G to T substitution at nucleotide position 430. The aspartic acid at codon 144 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. 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. |