ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.960T>G (p.Tyr320Ter)

dbSNP: rs876657687
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000222108 SCV000271360 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2015-06-10 criteria provided, single submitter clinical testing The p.Tyr320X variant in EDA has not been previously reported in individuals wit h hypohidrotic ectodermal dysplasia (HED) and was absent from large population s tudies. This nonsense variant leads to a premature termination codon at position 320, which is predicted to lead to a truncated or absent protein. Heterozygous loss of function of the EDA gene is an established disease mechanism in X-linked HED. In summary, this variant meets our criteria to be classified as pathogeni c for HED in an X-linked manner (http://www.partners.org/personalizedmedicine/LM M) based upon absence from controls and predicted impact to the protein.

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