ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.73C>T (p.Arg25Ter)

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Total submissions: 1
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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.

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