ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys)

dbSNP: rs138008832
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics Research Program, University of Adelaide RCV001795218 SCV001737596 likely pathogenic Cerebral palsy 2021-06-10 criteria provided, single submitter research
GeneDx RCV001560202 SCV001782563 uncertain significance not provided 2023-08-01 criteria provided, single submitter clinical testing Reported as a variant of uncertain significance in an individual with Alzheimer's disease (Lenglez et al., 2021); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26599395, 27776010, 25212438, 25686613, 28935882, 28298627, 24796542, 34494111, 31004414, 30805583, 29152850, Kaya_2023, 36469195, 33449152)
Centogene AG - the Rare Disease Company RCV000128554 SCV002059490 uncertain significance Basal ganglia calcification, idiopathic, 4 2019-04-15 criteria provided, single submitter clinical testing
Invitae RCV003764848 SCV004605173 uncertain significance Acroosteolysis-keloid-like lesions-premature aging syndrome; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 2023-10-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 695 of the PDGFRB protein (p.Arg695Cys). This variant is present in population databases (rs138008832, gnomAD 0.02%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with basal ganglia calcification (PMID: 24796542, 34494111). ClinVar contains an entry for this variant (Variation ID: 135650). 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 not expected to disrupt PDGFRB protein function. Experimental studies have shown that this missense change affects PDGFRB function (PMID: 24796542, 34494111). 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.
Rademakers Lab, Mayo Clinic RCV000128554 SCV000120650 likely pathogenic Basal ganglia calcification, idiopathic, 4 2012-01-01 no assertion criteria provided research Risk allele was found to induce deficient protein function in cell culture

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.