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
Labcorp Genetics (formerly Invitae), Labcorp 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 premature translational stop signal has been observed in individual(s) with autosomal recessive hypohidrotic ectodermal dysplasia (Invitae). 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 variant is present in population databases (no rsID available, gnomAD 0.006%). 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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