Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000633761 | SCV000755034 | uncertain significance | Gastrointestinal stromal tumor | 2022-12-09 | 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: 528540). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This variant is present in population databases (rs774507815, gnomAD 0.0009%). This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 622 of the PDGFRA protein (p.Met622Leu). |
| Ambry Genetics | RCV002413818 | SCV002721933 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-04-01 | criteria provided, single submitter | clinical testing | The p.M622L variant (also known as c.1864A>T), located in coding exon 12 of the PDGFRA gene, results from an A to T substitution at nucleotide position 1864. The methionine at codon 622 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. |