Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001039438 | SCV001202968 | uncertain significance | Gastrointestinal stromal tumor | 2023-09-09 | 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: 837984). 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 aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 738 of the PDGFRA protein (p.Asp738His). |
| Ambry Genetics | RCV004031105 | SCV005024455 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-11-11 | criteria provided, single submitter | clinical testing | The p.D738H variant (also known as c.2212G>C), located in coding exon 15 of the PDGFRA gene, results from a G to C substitution at nucleotide position 2212. The aspartic acid at codon 738 is replaced by histidine, an amino acid with 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. |