Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mendelics | RCV000987448 | SCV001136739 | likely pathogenic | Gastrointestinal stromal tumor | 2019-05-28 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV001022627 | SCV001184385 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-04-23 | criteria provided, single submitter | clinical testing | The p.R151C variant (also known as c.451C>T), located in coding exon 3 of the PDGFRA gene, results from a C to T substitution at nucleotide position 451. The arginine at codon 151 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. 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. |
| Invitae | RCV000987448 | SCV001514757 | uncertain significance | Gastrointestinal stromal tumor | 2023-02-22 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 802074). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 151 of the PDGFRA protein (p.Arg151Cys). 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. |
| Baylor Genetics | RCV003473530 | SCV004200920 | uncertain significance | Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal | 2023-09-02 | criteria provided, single submitter | clinical testing |