ClinVar Miner

Submissions for variant NM_005249.5(FOXG1):c.730C>T (p.Arg244Cys) (rs786205009)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000170082 SCV000770133 pathogenic Rett syndrome, congenital variant 2017-11-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 244 of the FOXG1 protein (p.Arg244Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in individuals affected with Rett syndrome (PMID: 21280142, 24901346 ). ClinVar contains an entry for this variant (Variation ID: 189620). Experimental studies have shown that this missense change Arg244Cys, disrupted nuclear localization (PMID: 21280142 ) and disrupts chromatin binding (PMID: 22091895) For these reasons, this variant has been classified as Pathogenic.
RettBASE RCV000170082 SCV000222395 pathogenic Rett syndrome, congenital variant 2011-03-29 no assertion criteria provided curation

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