ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.526+5G>T (rs397516664)

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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, Partners HealthCare Personalized Medicine RCV000037174 SCV000060831 likely pathogenic Hypohidrotic X-linked ectodermal dysplasia 2015-01-26 criteria provided, single submitter clinical testing The c.526+5G>T variant in EDA has not been reported in the literature but has be en identified in 2 individuals from the same family with X-linked hypohidrotic e ctodermal dysplasia (XLHED) by our laboratory (1 adult female and 1 male). This variant is located in the 5' splice region. Computational tools do suggest an im pact to splicing. However, this information is not predictive enough to determin e pathogenicity. In summary, although additional studies are required to fully e stablish its clinical significance, the c.526+5G>T variant is likely pathogenic based upon the predicted splice impact and its presence it two affected individu als.

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