ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1962T>A (p.His654Gln)

gnomAD frequency: 0.00001  dbSNP: rs745658205
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001886138 SCV002157305 uncertain significance Gastrointestinal stromal tumor 2023-09-13 criteria provided, single submitter clinical testing This variant is present in population databases (rs745658205, gnomAD 0.007%). 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) performed at Invitae indicates that this missense variant is expected to disrupt PDGFRA protein function. ClinVar contains an entry for this variant (Variation ID: 1379958). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 654 of the PDGFRA protein (p.His654Gln).
Ambry Genetics RCV002422955 SCV002720144 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-12 criteria provided, single submitter clinical testing The p.H654Q variant (also known as c.1962T>A), located in coding exon 13 of the PDGFRA gene, results from a T to A substitution at nucleotide position 1962. The histidine at codon 654 is replaced by glutamine, an amino acid with highly similar 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.
Baylor Genetics RCV003475140 SCV004200949 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2023-07-15 criteria provided, single submitter clinical testing

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.