Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156436 | SCV000206154 | pathogenic | Hypohidrotic X-linked ectodermal dysplasia | 2014-02-28 | criteria provided, single submitter | clinical testing | The c.502+1G>A variant in EDA has not been reported in any other families with X -linked hypohidrotic ectodermal dysplasia (XLHED) and was absent from large popu lation studies. This variant occurs in the invariant region (+/- 1,2) of the sp lice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. In summary, this variant meets our criteria to be classified as pathogenic for HED in an X-linked manner (http://www.partners.org/ personalizedmedicine/LMM) based upon predicted impact to the protein and absence from controls. |