Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002664250 | SCV003524674 | pathogenic | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | 2022-09-15 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs773132518, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg25*) in the EDAR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EDAR are known to be pathogenic (PMID: 10431241, 10431242, 20979233, 28981473). This premature translational stop signal has been observed in individual(s) with autosomal dominant tooth agenesis and autosomal recessive ectodermal dysplasia (PMID: 28981473, 32274043). For these reasons, this variant has been classified as Pathogenic. |