ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.931G>T (p.Glu311Ter)

gnomAD frequency: 0.00001  dbSNP: rs1432041144
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Total submissions: 1
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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.

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