Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000799205 | SCV000938858 | uncertain significance | Gastrointestinal stromal tumor | 2018-08-04 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine with threonine at codon 71 of the PDGFRA protein (p.Ile71Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PDGFRA-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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. |
| Ambry Genetics | RCV002422729 | SCV002729986 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-03-04 | criteria provided, single submitter | clinical testing | The p.I71T variant (also known as c.212T>C), located in coding exon 2 of the PDGFRA gene, results from a T to C substitution at nucleotide position 212. The isoleucine at codon 71 is replaced by threonine, an amino acid with 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. |