Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001944902 | SCV002135229 | uncertain significance | Gastrointestinal stromal tumor | 2023-05-28 | criteria provided, single submitter | clinical testing | 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. 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. ClinVar contains an entry for this variant (Variation ID: 1366903). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This variant is present in population databases (rs772948645, gnomAD 0.003%). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 799 of the PDGFRA protein (p.Thr799Ile). |
| Ambry Genetics | RCV004945748 | SCV005471014 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-11-03 | criteria provided, single submitter | clinical testing | The p.T799I variant (also known as c.2396C>T), located in coding exon 16 of the PDGFRA gene, results from a C to T substitution at nucleotide position 2396. The threonine at codon 799 is replaced by isoleucine, 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. Based on the available evidence, the clinical significance of this variant remains unclear. |