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 2016-07-22 criteria provided, single submitter clinical testing The R306H pathogenic variant in the MECP2 gene has been reported previously in several individuals with Rett syndrome (Philippe et al., 2006; Cheadle et al., 2000). This variant was not observed in approximately 6500 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 R306H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-vitro studies suggest that the R306H variant abolishes binding of MECP2 to DNA (Heckman et al., 2014). We interpret R306H as a pathogenic variant.
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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