ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.560dup (p.Pro188fs)

dbSNP: rs1556098384
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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 RCV000537831 SCV000630030 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2019-04-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with EDA-related conditions. ClinVar contains an entry for this variant (Variation ID: 458658). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro188Serfs*52) 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). For these reasons, this variant has been classified as Pathogenic.

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