ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.659_676del (p.217_219PGP[1]) (rs876657686)

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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000402007 SCV000271359 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2015-07-22 criteria provided, single submitter clinical testing The p.Pro220_Pro225del variant in EDA has been reported in 4 individuals (3 mal es, 1 female) with clinical features of XLHED (Bayes 1998, Schneider 2011, Zhang 2011). This variant results in an in-frame deletion of 18 amino acids from the conserved Gly-X-Y repeat region of the collagen subdomain of the EDA protein. Se veral adjacent in-frame and frameshift deletions have also been identified in pa tients with clinical features of XLHED (Bayes 1998, Cluzeau 2011, Zhang 2011, LM M unpublished data), indicating that this region is intolerant to these types of variation. In summary, this variant meets our criteria to be classified as path ogenic for hypohidrotic ectodermal dysplasia in an X-linked manner.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725905 SCV000340413 pathogenic not provided 2016-03-30 criteria provided, single submitter clinical testing
Invitae RCV000402007 SCV000754738 likely pathogenic Hypohidrotic X-linked ectodermal dysplasia 2018-11-06 criteria provided, single submitter clinical testing This variant, c.659_676del, results in the deletion of 6 amino acids of the EDA protein (p.Pro220_Pro225del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been reported in several individuals affected with ectodermal dysplasia, including a family with 2 affected members (PMID: 9736768, 27305980, 21357618). This variant is also known as 891/901del18 in the literature. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as 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.