ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.766C>T (p.Gln256Ter) (rs727504417)

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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 RCV000686194 SCV000204281 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2013-09-20 criteria provided, single submitter clinical testing The Gln256X variant in EDA has been reported in one individual with X-linked hyp ohidrotic ectodermal dysplasia (Schneider 2001). This nonsense variant leads t o a premature termination codon at position 256, which is predicted to lead to a truncated or absent protein. Heterozygous loss of function of the EDA gene is a n established disease mechanism in XLHED. In summary, this variant meets our cri teria to be classified as pathogenic (http://pcpgm.partners.org/LMM).
Invitae RCV000686194 SCV000813699 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2019-03-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln256*) 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 observed in individuals affected with hypohidrotic ectodermal dysplasia (PMID: 11279189, 25333067, Invitae) and was found to be de novo in at least one individual (Invitae). ClinVar contains an entry for this variant (Variation ID: 177947). 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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