ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1134_1136CCA[2] (p.His384del) (rs61752381)

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
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000132856 SCV000537168 uncertain significance Rett syndrome 2015-06-30 criteria provided, single submitter clinical testing
GeneDx RCV000522093 SCV000617415 uncertain significance not provided 2017-10-06 criteria provided, single submitter clinical testing The c.1104_1106delCCA variant has been reported previously as a de novo change in an individual with Rett syndrome who had another de novo variant in the MECP2 gene (Chapleau et al. (2013). The c.1104_1106delCCA variant is observed in 2/78036 (0.003%) alleles from individuals of European background, including one hemizygous individual in large population cohorts (Lek et al., 2016). The c.1104_1106delCCA variant results in an in-frame deletion of a single Histidine residue, denoted p.His372del. This substitution occurs at a position that is conserved in mammals. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
RettBASE RCV000132856 SCV000187835 uncertain significance Rett syndrome 2002-02-15 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.