ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.1088del (p.Thr363fs)

dbSNP: rs1574362082
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002233880 SCV000936196 pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 2020-08-14 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the EDAR gene (p.Thr363Serfs*9). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 86 amino acids of the EDAR protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with EDAR-related disease. Different truncations (p.Phe398* and p.Tyr364Thrfs*8) that lie downstream of this variant have been determined to be pathogenic (PMID: 23401279, 24641098, Invitae). This suggests that disruption of this region of the EDAR protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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