ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.477A>T (p.Arg159Ser)

dbSNP: rs876657640
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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 RCV000218495 SCV000271218 likely pathogenic Hypohidrotic X-linked ectodermal dysplasia 2015-07-22 criteria provided, single submitter clinical testing The p.Arg159Ser variant in EDA has not been previously reported in individuals w ith X-linked hypohidrotic ectodermal dysplasia (XLHED) and was absent from large population studies. This variant affects a critical residue within the furin do main, and changes at this position have been shown to inhibit cleavage at this d omain, thereby impacting the normal function of the protein (Chen 2001). In summ ary, although additional studies are required to fully establish its clinical si gnificance, the p.Arg159Ser variant is likely pathogenic.

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