ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.822G>T (p.Trp274Cys)

dbSNP: rs397516675
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 RCV000037187 SCV000060844 likely pathogenic Hypohidrotic X-linked ectodermal dysplasia 2011-07-22 criteria provided, single submitter clinical testing The Trp274Cys variant in EDA has not been reported in the literature nor previou sly identified by our laboratory. However, different amino acid changes at the s ame position (Trp274Gly, Trp274Arg) have been identified in 3 individuals with X -linked hypohidrotic ectodermal dysplasia (Paakkonen 2001, Schneider 2001, Cluze au 2011). In addition, this residue is conserved across species and computation al analyses (PolyPhen2, SIFT, AlignGVGD) suggest that the Trp274Cys variant may impact the protein. The change to a Cysteine at position 274 is likely to create an equal or greater impact to the protein than the other two missense mutations making it likely that this mutation is also pathogenic. In summary, this varia nt is likely to be 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.