ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.400G>A (p.Val134Met) (rs267608455)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254852 SCV000322257 pathogenic not provided 2016-08-09 criteria provided, single submitter clinical testing The V122M missense variant in the MECP2 gene has been reported previously as a de novo variant in a female patient with Rett syndrome (Li et al., 2007). The V122M variant was not observed in approximately 6,500 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 V122M variant is a conservative amino acid substitution. This substitution alters a conserved position predicted to be part of the hydrophobic core within the mCpG-binding domain (MBD) of the MECP2 protein (Wakefield et al., 1999). A different missense variant in the same codon (V122A) as well as multiple missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with MECP2-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. In silico analysis predicts this variant is probably damaging to the protein structure/function.
RettBASE RCV000133079 SCV000188067 uncertain significance Rett syndrome 2008-02-18 no assertion criteria provided curation

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