ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.979A>T (p.Lys327Ter)

dbSNP: rs1696805876
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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 RCV001227034 SCV001399370 pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 2023-09-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with EDAR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys327*) in the EDAR gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 122 amino acid(s) of the EDAR protein. ClinVar contains an entry for this variant (Variation ID: 954560). 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.Arg358*) have been determined to be pathogenic (PMID: 10431241, 17125505, 27305980). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing.

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