Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001978348 | SCV002271407 | uncertain significance | Gastrointestinal stromal tumor | 2023-06-27 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PDGFRA protein function. ClinVar contains an entry for this variant (Variation ID: 1489585). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 499 of the PDGFRA protein (p.Val499Leu). |
| Ambry Genetics | RCV002388997 | SCV002700497 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-08-07 | criteria provided, single submitter | clinical testing | The p.V499L variant (also known as c.1495G>T), located in coding exon 9 of the PDGFRA gene, results from a G to T substitution at nucleotide position 1495. The valine at codon 499 is replaced by leucine, 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. |
| ARUP Laboratories, |
RCV003738123 | SCV004564249 | uncertain significance | not provided | 2023-01-06 | criteria provided, single submitter | clinical testing | The PDGFRA c.1495G>T; p.Val499Leu variant, to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1489585). This variant is also absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The valine at codon 499 is highly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.410). Due to limited information, the clinical significance of this variant is uncertain at this time. |