ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.1151_1154dup (p.Asp386fs)

dbSNP: rs2105371643
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001896839 SCV002175452 pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 2021-07-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the EDAR protein in which other variant(s) (p.Ile388Thr) have been determined to be pathogenic (PMID: 21771270). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with EDAR-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp386Glufs*3) in the EDAR gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 63 amino acid(s) of the EDAR protein.

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