ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu) (rs61748391)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424796 SCV000513559 pathogenic not provided 2016-12-19 criteria provided, single submitter clinical testing The K135E variant in the MECP2 gene has been reported previously in multiple individuals with classic Rett syndrome (Laccone et al., 2001; Kammoun et al., 2004; Zahorakova et al., 2007; Lim et al., 2012). The K135E variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The K135E variant is a non-conservative amino acid substitution, which occurs at a position within the methyl-CpG binding domain that is conserved across species. Functional characterization has shown that the K135E variant impairs the function of the methyl CpG binding domain and weakens the ability of the MECP2 protein to repress transcription (Kudo et al., 2003; Agarwal et al., 2011). We interpret K135E as a pathogenic variant
Institute of Human Genetics, University of Leipzig Medical Center RCV000133097 SCV001428813 pathogenic Rett syndrome 2019-04-05 criteria provided, single submitter clinical testing
RettBASE RCV000133097 SCV000188087 uncertain significance Rett syndrome 2010-07-13 no assertion criteria provided curation

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