Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001235896 | SCV001408603 | uncertain significance | Gastrointestinal stromal tumor | 2019-11-11 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PDGFRA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with tryptophan at codon 793 of the PDGFRA protein (p.Leu793Trp). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and tryptophan. |
| Ambry Genetics | RCV004033296 | SCV005024460 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-03-04 | criteria provided, single submitter | clinical testing | The p.L793W variant (also known as c.2378T>G), located in coding exon 16 of the PDGFRA gene, results from a T to G substitution at nucleotide position 2378. The leucine at codon 793 is replaced by tryptophan, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear. |