ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.676C>T (p.Gln226Ter) (rs727503007)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150598 SCV000197886 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2014-08-21 criteria provided, single submitter clinical testing The Gln226X variant in EDA has not been previously reported in individuals with hyophidrotic ectodermal dysplasia. Data from large population studies is insuffi cient to assess the frequency of this variant. This nonsense variant leads to a premature termination codon at position 226, which is predicted to lead to a tru ncated or absent protein. Heterozygous loss of function of the EDA gene is an es tablished disease mechanism in XLHED. In summary, this variant meets our criter ia to be classified as pathogenic (
Invitae RCV000150598 SCV001389046 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2019-06-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln226*) 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 not been reported in the literature in individuals with EDA-related conditions. ClinVar contains an entry for this variant (Variation ID: 163315). 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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