ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1A>T (p.Met1Leu) (rs587783132)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000144804 SCV000280834 pathogenic not provided 2015-09-11 criteria provided, single submitter clinical testing
GeneDx RCV000144804 SCV000191030 pathogenic not provided 2016-06-15 criteria provided, single submitter clinical testing The c.1 A>T mutation in the MECP2 gene has been reported previously in association with classic Rett syndrome (Saunders et al., 2009). The mutation alters the initiator Methionine codon in the MeCP2_e1 transcript of the MECP2 gene, and the resultant protein would be described as p.Met1?" using a question mark to signify that it is not known if the loss of Met1 means that all protein translation is completely prevented or if an abnormal protein is produced using an alternate Met. The variant is found in INFANT-EPI panel(s)."
RettBASE RCV000170280 SCV000222612 uncertain significance Rett syndrome 2009-11-05 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.