ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.329C>A (p.Ser110Ter)

dbSNP: rs397516660
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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 RCV000037167 SCV000060824 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2011-09-20 criteria provided, single submitter clinical testing The Ser110X variant in EDA has not been reported in the literature nor previousl y identified by our laboratory. This variant leads to a premature stop codon at position 110, which is predicted to lead to a truncated or absent protein. Ther efore, it is highly likely that this variant is pathogenic.

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