Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000531676 | SCV000630622 | uncertain significance | Gastrointestinal stromal tumor | 2017-04-18 | criteria provided, single submitter | clinical testing | 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, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a PDGFRA-related disease. This sequence change replaces methionine with leucine at codon 900 of the PDGFRA protein (p.Met900Leu). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and leucine. |
| Ambry Genetics | RCV004649189 | SCV005151725 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-05-17 | criteria provided, single submitter | clinical testing | The p.M900L variant (also known as c.2698A>T), located in coding exon 19 of the PDGFRA gene, results from an A to T substitution at nucleotide position 2698. The methionine at codon 900 is replaced by leucine, 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. |