ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter) (rs61753979)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000132995 SCV000247950 pathogenic Rett syndrome 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000599411 SCV000709923 pathogenic not provided 2017-11-22 criteria provided, single submitter clinical testing The R453X nonsense variant in the MECP2 gene has been reported previously in association with Rett syndrome (Buoni et al., 2008; Mari et al., 2005). It has also been reported as an apparently de novo pathogenic variant in a female with autism spectrum disorder who met criteria for the preserved speech variant (PSV) of Rett syndrome (Zappella et al., 2003). The R453X variant is not observed in large population cohorts (Lek et al., 2016). This pathogenic variant is predicted to cause loss of normal protein function through protein truncation as the last 34 residues are lost. Therefore the presence of the R453X pathogenic variant is consistent with the diagnosis of a MECP2-related disorder in this individual.
Institute of Human Genetics, University of Leipzig Medical Center RCV000132995 SCV001428821 pathogenic Rett syndrome 2019-04-05 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001255377 SCV001431707 pathogenic Intellectual disability 2020-08-03 criteria provided, single submitter clinical testing The variant c.1357C>T, p.(Arg453*) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Pathogenic according to ACMG guidelines. Inheritance for this variant was not maternal.The variant likely explains the NDD in this individual.
RettBASE RCV000132995 SCV000187981 pathogenic Rett syndrome 2011-02-15 no assertion criteria provided curation

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