ClinVar Miner

Submissions for variant NM_001399.4(EDA):c.(?_397)-340_(496_?)dup

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156854 SCV000206575 likely pathogenic Hypohidrotic X-linked ectodermal dysplasia 2015-12-17 criteria provided, single submitter clinical testing The duplication of exon 2 in EDA has been identified by our laboratory in 1 male with hypohidrotic ectodermal dysplasia (HED) and segregated with features of HE D in 1 mildly affected sister. It has also been identified in 3 females, two of whom had features of HED (Al Marzouqi 2014, LMM data). The exact location, size and breakpoints of the duplication cannot be determined due to limitations of th e method. Larger duplications spanning this region have been reported in 3 femal es without any reported clinical features (Kidd 2008; DGV nsv6948; Shaikh 2009 p ers. com.; DGV nsv520990); however, this may be due to skewed X-inactivation whi ch may lead to milder or absent clinical features in females. In summary, althou gh additional studies are required to fully establish its clinical significance, the duplication of exon 2 variant is likely pathogenic.

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.