Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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. |