ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.28G>T (p.Glu10Ter)

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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 RCV003524136 SCV004260483 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2023-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu10*) in the EDA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EDA are known to be pathogenic (PMID: 9683615). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EDA-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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