ClinVar Miner

Submissions for variant NM_145861.4(EDARADD):c.417G>A (p.Trp139Ter)

gnomAD frequency: 0.00001  dbSNP: rs954823206
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549383 SCV000652456 pathogenic Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive 2022-08-15 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.006%). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the EDARADD protein in which other variant(s) (p.Glu142Lys) have been observed in individuals with EDARADD-related conditions (PMID: 11780064). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 473077). This premature translational stop signal has been observed in individual(s) with autosomal recessive hypohidrotic ectodermal dysplasia (Invitae). This sequence change creates a premature translational stop signal (p.Trp139*) in the EDARADD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 77 amino acid(s) of the EDARADD protein.

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