ClinVar Miner

Submissions for variant NM_001399.4(EDA):c.(?_397-304)_(460_?)del

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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 RCV000150589 SCV000197876 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2012-02-06 criteria provided, single submitter clinical testing The deletion of exon 2 of EDA has not been reported in the literature but has be en identified by our laboratory in other individuals with hypohidrotic ectoderma l dysplasia. In addition, single or multiple exon deletions in the EDA gene have been reported in individuals with XLHED, including deletions encompassing exon 2 (Kere 1996, Bayes 1998, Monreal 1998, Paakkonen 2001, Vincent 2001, Lexner 200 8, Li 2008, Gros 2010, Cluzeau 2011). This deletion is expected to lead to a tru ncated or absent protein. In summary, this variant meets our criteria to be clas sified as pathogenic (http://pcpgm.partners.org/LMM).

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