Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000218495 | SCV000271218 | likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia | 2015-07-22 | criteria provided, single submitter | clinical testing | The p.Arg159Ser variant in EDA has not been previously reported in individuals w ith X-linked hypohidrotic ectodermal dysplasia (XLHED) and was absent from large population studies. This variant affects a critical residue within the furin do main, and changes at this position have been shown to inhibit cleavage at this d omain, thereby impacting the normal function of the protein (Chen 2001). In summ ary, although additional studies are required to fully establish its clinical si gnificance, the p.Arg159Ser variant is likely pathogenic. |