Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000633507 | SCV000754744 | uncertain significance | Hypohidrotic X-linked ectodermal dysplasia | 2018-01-07 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with EDA-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with phenylalanine at codon 205 of the EDA protein (p.Ile205Phe). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and phenylalanine. |