Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000807929 | SCV000948009 | pathogenic | Hypohidrotic X-linked ectodermal dysplasia | 2019-10-03 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 2 of the EDA gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has been observed in several individuals with ectodermal dysplasia (PMID: 8696334, 27305980, 23293949, Invitae). Loss-of-function variants in EDA are known to be pathogenic (PMID: 9683615). For these reasons, this variant has been classified as Pathogenic. |