ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.398G>A (p.Arg133His) (rs61748389)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000133092 SCV000191036 pathogenic not provided 2016-06-20 criteria provided, single submitter clinical testing The R133H pathogenic variant in the MECP2 gene has been reported previously in individuals with classic and atypical Rett syndrome, (Hoffbuhr, et al., 2001; Philippe et al., 2006), including a female with the preserved speech variant of Rett syndrome (Bao et al., 2008) and in a male with Rett syndrome where R133H was observed as a somatic mosaic pathogenic variant (Armstrong et al., 2011). R133H alters a highly conserved residue in the methyl-binding domain (MBD) of the MECP2 protein, where many missense variants at the same codon (R133C, R133G, R133L, R133P) and nearby codons have been reported (RettBASE; Stenson et al, 2014). Therefore, the presence of R133H is consistent with a diagnosis of a MECP2-related disorder
RettBASE RCV000169945 SCV000188082 uncertain significance Rett syndrome 2013-06-12 no assertion criteria provided curation

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