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 For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EDA are known to be pathogenic (PMID: 9683615). 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. This variant is not present in population databases (ExAC no frequency). 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).
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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