ClinVar Miner

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

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000503778 SCV000593022 pathogenic Baraitser-Winter syndrome 1 2016-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000624662 SCV000742353 pathogenic Inborn genetic diseases 2017-04-03 criteria provided, single submitter clinical testing
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.
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
Institute of Human Genetics, Klinikum rechts der Isar RCV000019937 SCV001149666 pathogenic Developmental malformations-deafness-dystonia syndrome 2019-06-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV001533046 SCV001748866 pathogenic ACTB-related BAFopathy 2021-06-10 criteria provided, single submitter clinical testing
OMIM RCV000019937 SCV000040235 pathogenic Developmental malformations-deafness-dystonia syndrome 2012-02-26 no assertion criteria provided literature only
GeneReviews RCV000019937 SCV000257374 pathogenic Developmental malformations-deafness-dystonia syndrome 2015-09-17 no assertion criteria provided literature only Associated with the BWCFF syndrome phenotype with early onset, progressive dystonia, and progressive esophageal achalasia.

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