Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001236589 | SCV001409321 | uncertain significance | Gastrointestinal stromal tumor | 2023-06-29 | 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: 962687). 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 isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1050 of the PDGFRA protein (p.Ile1050Thr). |
| Ambry Genetics | RCV004033317 | SCV005024653 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-01-28 | criteria provided, single submitter | clinical testing | The p.I1050T variant (also known as c.3149T>C), located in coding exon 22 of the PDGFRA gene, results from a T to C substitution at nucleotide position 3149. The isoleucine at codon 1050 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear. |