ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.502+1G>A

dbSNP: rs727505013
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized 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.

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