ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.946A>C (p.Lys316Gln) (rs61751440)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482101 SCV000568376 pathogenic not provided 2017-03-14 criteria provided, single submitter clinical testing The K304Q variant in the MECP2 gene has been reported previously in an individualwith classic Rett syndrome (Charman et al., 2005). The K304Q variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server. The K304Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. Additionally, a different missense variant (K304E) at the same and multiple missense variants in nearby residues have been reported in Human Gene Mutation Database in association with Rett Syndrome (Philippe et al., 2006; Stenson et al., 2014), supporting the functional importance of this region of the protein, Therefore, the presence of K304Q is consistent with the diagnosis of Rett syndrome in this individual.

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