ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.347T>A (p.Leu116Ter)

dbSNP: rs397516661
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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 RCV000037168 SCV000060825 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2011-09-04 criteria provided, single submitter clinical testing The Leu116X variant has not been reported in the literature nor previously ident ified by our laboratory. The variant leads to a premature stop codon at positio n 116, which is predicted to lead to a truncated or absent protein. Therefore, t his variant meets our criteria to be classified as pathogenic. The presence of a hemizygous pathogenic variant in EDA is consistent with a diagnosis of X-linked hypohidrotic ectodermal dysplasia, but this information should be reconciled wi th the complete clinical history of this individual.

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