Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neurogenetics Research Program, |
RCV001795218 | SCV001737596 | likely pathogenic | Cerebral palsy | 2021-06-10 | criteria provided, single submitter | research | |
Gene |
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 - |
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, |
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 |