ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.3256G>T (p.Asp1086Tyr)

dbSNP: rs2110359089
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 RCV002049261 SCV002111671 uncertain significance Gastrointestinal stromal tumor 2023-07-07 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 1086 of the PDGFRA protein (p.Asp1086Tyr). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1351562). 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).
Ambry Genetics RCV003164044 SCV003912533 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-12 criteria provided, single submitter clinical testing The p.D1086Y variant (also known as c.3256G>T), located in coding exon 22 of the PDGFRA gene, results from a G to T substitution at nucleotide position 3256. The aspartic acid at codon 1086 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.