Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000538111 | SCV000630677 | uncertain significance | Gastrointestinal stromal tumor | 2021-04-26 | 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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. ClinVar contains an entry for this variant (Variation ID: 459121). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with valine at codon 252 of the PDGFRA protein (p.Glu252Val). The glutamic acid residue is weakly conserved and there is a moderate physicochemical difference between glutamic acid and valine. |
| Ambry Genetics | RCV004023801 | SCV005024415 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-03-19 | criteria provided, single submitter | clinical testing | The c.755A>T (p.E252V) alteration is located in exon 5 (coding exon 4) of the PDGFRA gene. This alteration results from a A to T substitution at nucleotide position 755, causing the glutamic acid (E) at amino acid position 252 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |