Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000802439 | SCV000942271 | uncertain significance | Gastrointestinal stromal tumor | 2022-01-20 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 647837). 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 tolerated. This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 768 of the PDGFRA protein (p.Tyr768His). |
| Ambry Genetics | RCV004028110 | SCV005024342 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-09-16 | criteria provided, single submitter | clinical testing | The p.Y768H variant (also known as c.2302T>C), located in coding exon 15 of the PDGFRA gene, results from a T to C substitution at nucleotide position 2302. The tyrosine at codon 768 is replaced by histidine, 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. |
| Baylor Genetics | RCV004569586 | SCV005055165 | uncertain significance | Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal | 2024-01-20 | criteria provided, single submitter | clinical testing |