ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.587G>A (p.Arg196His) (rs281875334)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000022439 SCV000246315 pathogenic Baraitser-Winter syndrome 1 2014-06-05 criteria provided, single submitter clinical testing
GeneDx RCV000059721 SCV000566140 pathogenic not provided 2018-08-10 criteria provided, single submitter clinical testing The R196H variant has been published previously in association with Baraitser-Winter syndrome, including confirmed de novo occurrences (Rivière et al., 2012; Verloes et al., 2015). It is reported as pathogenic in ClinVar by a different clinical laboratory, but additional evidence is not available (ClinVar SCV000246315.1; Landrum et al., 2015). The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. A missense variant in the same residue (R196C) has been reported in the Human Gene Mutation Database in association with Baraitser-Winter syndrome (Stenson et al., 2014), supporting the functional importance of this region of the protein. In summary, we consider this variant to be pathogenic.
OMIM RCV000022439 SCV000043728 pathogenic Baraitser-Winter syndrome 1 2012-02-26 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059721 SCV000091291 not provided not provided no assertion provided not provided
GeneReviews RCV000022439 SCV000257376 pathogenic Baraitser-Winter syndrome 1 2015-09-17 no assertion criteria provided literature only

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