ClinVar Miner

Submissions for variant NM_001101.5(ACTB):c.586C>T (p.Arg196Cys) (rs281875333)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000059720 SCV000617032 likely pathogenic not provided 2017-04-03 criteria provided, single submitter clinical testing The R196C variant has been published as a pathogenic variant in association with Baraitser-Winter syndrome and observed de novo (Di Donato et al., 2014; Rivière et al., 2012; Verloes et al., 2015). The R196C variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R196C 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. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Another missense variant in this residue (R196H) has been reported in the Human Gene Mutation Database in association with Baraitser-Winter syndrome (Stenson et al., 2014).
OMIM RCV000022440 SCV000043729 pathogenic Baraitser-Winter syndrome 1 2014-02-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059720 SCV000091290 not provided not provided no assertion provided not provided
Department of Genetics,Robert DEBRE University Hospital RCV000022440 SCV000148643 pathogenic Baraitser-Winter syndrome 1 2014-04-15 no assertion criteria provided clinical testing
GeneReviews RCV000022440 SCV000257375 pathogenic Baraitser-Winter syndrome 1 2015-09-17 no assertion criteria provided literature only

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