Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000689707 | SCV000817371 | pathogenic | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | 2019-05-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EDAR are known to be pathogenic (PMID: 10431241, 20979233). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with EDAR-related disease. ClinVar contains an entry for this variant (Variation ID: 569147). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu311*) in the EDAR gene. It is expected to result in an absent or disrupted protein product. |