Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001918358 | SCV002179932 | uncertain significance | Gastrointestinal stromal tumor | 2021-07-25 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 545 of the PDGFRA protein (p.Leu545Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. |
| Ambry Genetics | RCV002397890 | SCV002704503 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-11-28 | criteria provided, single submitter | clinical testing | The p.L545P variant (also known as c.1634T>C), located in coding exon 10 of the PDGFRA gene, results from a T to C substitution at nucleotide position 1634. The leucine at codon 545 is replaced by proline, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |