ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.902A>G (p.Tyr301Cys) (rs397516681)

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, Partners HealthCare Personalized Medicine RCV000037193 SCV000060850 likely pathogenic Hypohidrotic X-linked ectodermal dysplasia 2012-05-16 no assertion criteria provided clinical testing The Tyr301Cys variant in EDA has been reported in one individual with X-linked h ypohidrotic ectodermal dysplasia (Zhang 2011). This variant falls within the TNF domain of the protein and variants in this region are believed to greatly impac t protein function (Zhang 2011). Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) also suggest that the Tyr301Cys variant may impact the protein, though this information is not predict ive enough to determine pathogenicity. In summary, this variant is likely to be pathogenic, though additional data is required to fully establish the pathogenic ity of this variant.

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.