ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.48C>T (p.Gly16=) (rs786205045)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519373 SCV000618566 pathogenic not provided 2018-09-12 criteria provided, single submitter clinical testing The c.48 C>T variant in the MECP2 gene was reported previously as an assumed de novo variant in a female with classic Rett syndrome and has also been detected as a confirmed de novo variant in a patient tested at GeneDx (Sheikh et al., 2013). The c.48 C>T variant is a silent substitution that alters a conserved position in the MECP2_e1 transcript. In silico models predict it creates a cryptic splice donor site, leading to abnormal gene splicing. Sequencing of cDNA from lymphocytes of a patient heterozygous for c.48 C>T confirmed this variant results in alternative splicing that introduces a premature stop codon, and quantitative mRNA analysis detected both the mutant transcript and reduced levels of the wildtype MECP2_e1 transcript compared to healthy controls (Sheikh et al., 2013). The c.48 C>T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.48 C>T as a pathogenic variant.
RettBASE RCV000170291 SCV000222624 pathogenic Rett syndrome 2013-12-05 no assertion criteria provided curation

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.