ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.67C>T (p.Gln23Ter)

dbSNP: rs132630310
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000011780 SCV000754741 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2017-11-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln23*) in the EDA gene. It is expected to result in an absent or disrupted protein product. 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 been reported in the literature in an individual affected with X linked hypohidrotic ectodermal dysplasia (PMID: 9507389). ClinVar contains an entry for this variant (Variation ID: 11033). This variant is not present in population databases (ExAC no frequency).
GeneDx RCV004786252 SCV005401387 pathogenic not provided 2024-05-14 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 9507389)
OMIM RCV000011780 SCV000032012 pathogenic Hypohidrotic X-linked ectodermal dysplasia 1998-02-01 no assertion criteria provided literature only

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