Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000696864 | SCV000825444 | uncertain significance | Gastrointestinal stromal tumor | 2018-02-08 | 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. 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 disruptive, 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 PDGFRA-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with alanine at codon 608 of the PDGFRA protein (p.Val608Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. |
| Ambry Genetics | RCV004649276 | SCV005151702 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-04-15 | criteria provided, single submitter | clinical testing | The p.V608A variant (also known as c.1823T>C), located in coding exon 12 of the PDGFRA gene, results from a T to C substitution at nucleotide position 1823. The valine at codon 608 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |