ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.925C>T (p.Gln309Ter) (rs61751367)

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
Invitae RCV000688413 SCV000816023 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2019-08-30 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MECP2 gene (p.Gln297*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 202 amino acids of the MECP2 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in individuals affected with Rett syndrome (PMID: 11462237). ClinVar contains an entry for this variant (Variation ID: 143727). For these reasons, this variant has been classified as Pathogenic.
RettBASE RCV000133269 SCV000188276 pathogenic Rett syndrome 2002-09-05 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.