ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.1097_1098del (p.Asn365_Ser366insTer)

dbSNP: rs2105371772
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002000044 SCV002229976 pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 2021-07-22 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.Gly382Ser) have been determined to be pathogenic (PMID: 16029325, 22032522). 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.Ser366*) in the EDAR gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 83 amino acid(s) of the EDAR protein.

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