ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.334C>G (p.Leu112Val) (rs28935168)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498874 SCV000589568 pathogenic not provided 2017-06-19 criteria provided, single submitter clinical testing The L100V pathogenic variant in the MECP2 gene has been reported multiple times previously in association with Rett syndrome (Buyse et al., 2000; Chae et al., 2002; RettBASE). Functional studies suggest that L100V results in a unstable MECP2 protein (Kucukkal et al., 2015; Yang et al., 2016). The L100V variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L100V variant is a conservative amino acid substitution. This substitution occurs at a position that is conserved across species, and multiple missense variants in nearby residues have been reported in in association with Rett syndrome (Stenson et al., 2014; RettBASE), supporting the functional importance of this region of the protein. Therefore, the presence of L100V is consistent with the diagnosis of Rett syndrome in this individual.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000498874 SCV001248058 pathogenic not provided 2018-12-01 criteria provided, single submitter clinical testing
OMIM RCV000012608 SCV000032843 pathogenic Rett syndrome 2003-10-15 no assertion criteria provided literature only
RettBASE RCV000012608 SCV000188042 uncertain significance Rett syndrome 2012-09-27 no assertion criteria provided curation

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