Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001318359 | SCV001509057 | uncertain significance | Gastrointestinal stromal tumor | 2023-01-20 | 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. 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: 1018986). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 192 of the PDGFRA protein (p.Thr192Ser). |
| Ambry Genetics | RCV004651576 | SCV005151742 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-06-17 | criteria provided, single submitter | clinical testing | The p.T192S variant (also known as c.575C>G), located in coding exon 3 of the PDGFRA gene, results from a C to G substitution at nucleotide position 575. The threonine at codon 192 is replaced by serine, an amino acid with 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. |