ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) (rs61749723)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413239 SCV000490611 pathogenic not provided 2018-02-14 criteria provided, single submitter clinical testing The P302L missense variant in the MECP2 gene has been reported multiple times previously in association with Rett syndrome (Cheadle et al., 2000; RettBASE). It was not observed in approximately 6,500 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 P302L 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 conserved position predicted to be within the transcriptional repression domain (TRD). Multiple different missense variants at the same residue as well as multiple missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with Rett syndrome (Stenson et al., 2014), supporting the functional importance of this region of the protein.
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000133281 SCV000537170 likely pathogenic Rett syndrome 2015-06-30 criteria provided, single submitter clinical testing
RettBASE RCV000133281 SCV000188289 uncertain significance Rett syndrome 2008-01-21 no assertion criteria provided curation
The Raphael Recanati Genetics Institute,Rabin Medical Center RCV000754784 SCV000882666 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2018-09-13 no assertion criteria provided clinical testing

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