Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001995618 | SCV002268111 | uncertain significance | Gastrointestinal stromal tumor | 2023-05-23 | 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. This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 706 of the PDGFRA protein (p.Asp706Gly). This variant is present in population databases (rs764225560, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1482418). 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. |
| Ambry Genetics | RCV004945859 | SCV005471107 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-09-30 | criteria provided, single submitter | clinical testing | The p.D706G variant (also known as c.2117A>G), located in coding exon 14 of the PDGFRA gene, results from an A to G substitution at nucleotide position 2117. The aspartic acid at codon 706 is replaced by glycine, 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. |