Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000553051 | SCV000630664 | uncertain significance | Gastrointestinal stromal tumor | 2017-06-11 | criteria provided, single submitter | clinical testing | In summary, this variant has uncertain impact on PDGFRA function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with a PDGFRA-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with asparagine at codon 174 of the PDGFRA protein (p.Ser174Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. |
| Ambry Genetics | RCV003159767 | SCV003863350 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-02-28 | criteria provided, single submitter | clinical testing | The p.S174N variant (also known as c.521G>A), located in coding exon 3 of the PDGFRA gene, results from a G to A substitution at nucleotide position 521. The serine at codon 174 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |