ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.239dup (p.Ser81fs)

dbSNP: rs1555972071
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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 RCV000633502 SCV000754737 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2017-10-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EDA are known to be pathogenic (PMID: 9683615). This variant has not been reported in the literature in individuals with EDA-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser81Leufs*19) in the EDA gene. It is expected to result in an absent or disrupted protein product.

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