ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.953G>A (p.Arg318His) (rs61751443)

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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 RCV000133290 SCV000248006 pathogenic Rett syndrome 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000256087 SCV000322254 pathogenic not provided 2021-03-30 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Published functional studies demonstrate that the p.R306H variant abolishes binding of MECP2 to DNA (Heckman et al., 2014); This variant is associated with the following publications: (PMID: 31780880, 11055898, 12655490, 11214906, 15057977, 16473305, 24970834, 10767337, 23921973)
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000133290 SCV000537171 likely pathogenic Rett syndrome 2015-06-30 criteria provided, single submitter clinical testing
NeuroMeGen,Hospital Clinico Santiago de Compostela RCV000133290 SCV000693793 likely pathogenic Rett syndrome 2018-01-01 criteria provided, single submitter clinical testing
RettBASE RCV000133290 SCV000188299 pathogenic Rett syndrome 2011-02-15 no assertion criteria provided curation

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