ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.547C>T (p.Arg183Trp) (rs104894003)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624662 SCV000742353 likely pathogenic Inborn genetic diseases 2017-04-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: LIKELY POSITIVE: Relevant Alteration(s) Detected
GeneDx RCV000680718 SCV000808162 pathogenic not provided 2018-07-30 criteria provided, single submitter clinical testing The R183W variant in the ACTB gene has been reported previously in individuals with features including sensorineural hearing loss, developmental delay, dystonia, and brain MRI hyperintensities (Eggink et al., 2017; Conboy et al., 2017; Procaccio et al., 2006). This variant is not observed in large population cohorts (Lek et al., 2016). The R183W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In addition, functional studies demonstrate that the R183W variant results in altered protein confirmation causing decreased polymerization rates as compared to wild type (Procaccio et al., 2006; Hundt et al., 2014). We interpret R183W as a pathogenic variant.
GeneReviews RCV000019937 SCV000257374 pathogenic Juvenile-onset dystonia 2015-09-17 no assertion criteria provided literature only Associated with the BWCFF syndrome phenotype with early onset, progressive dystonia, and progressive esophageal achalasia.
Genetic Services Laboratory, University of Chicago RCV000503778 SCV000593022 pathogenic Baraitser-Winter syndrome 1 2016-09-27 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics,National & Kapodistrian University of Athens RCV000503778 SCV000928382 pathogenic Baraitser-Winter syndrome 1 2019-01-11 criteria provided, single submitter clinical testing PS2, PM2, PP2, PP3, PP4, PP5
OMIM RCV000019937 SCV000040235 pathogenic Juvenile-onset dystonia 2012-02-26 no assertion criteria provided literature only

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.