ClinVar Miner

Submissions for variant NM_001399.4(EDA):c.(?_503)-88_(1176_?)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 RCV000150590 SCV000197877 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2013-06-25 criteria provided, single submitter clinical testing The deletion of exons 3 to 8 of the EDA has been reported in at least 3 males w ith X-linked hypohidrotic ectodermal dysplasia (XLHED; Lexner 2008, Gros 2010, S chneider 2011, Cluzeau 2011). In addition, other single or multiple exon deletio ns in the EDA gene have been reported in individuals with XLHED. This deletion i s expected to cause a loss of function of the EDA protein, consistent with an es tablished mechanism of pathogenicity in this disease. In summary, this variant m eets our criteria to be classified as pathogenic.

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