ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.2350G>T (p.Asp784Tyr)

dbSNP: rs1553905962
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000546903 SCV000630609 uncertain significance Gastrointestinal stromal tumor 2023-03-20 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PDGFRA protein function. ClinVar contains an entry for this variant (Variation ID: 459054). 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 aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 784 of the PDGFRA protein (p.Asp784Tyr).
Ambry Genetics RCV002448647 SCV002733107 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-21 criteria provided, single submitter clinical testing The p.D784Y variant (also known as c.2350G>T), located in coding exon 16 of the PDGFRA gene, results from a G to T substitution at nucleotide position 2350. The aspartic acid at codon 784 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.