ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.1137dup (p.Val380fs) (rs1557135793)

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 RCV000702922 SCV000831799 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2018-05-20 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MECP2 gene (p.Val380Argfs*13). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 107 amino acids of the MECP2 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MECP2-related disease. Several truncations (p.Leu386Hisfs*5, and p.Pro389*) that lie downstream of this variant have been determined to be pathogenic (PMID: 19914908, 16473305). This suggests that deletion of this region of the MECP2 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660654 SCV000782782 pathogenic Rett syndrome 2018-02-12 criteria provided, single submitter clinical testing

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.