ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.948del (p.Phe317fs)

dbSNP: rs727503010
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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 RCV000150605 SCV000197894 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2014-11-03 criteria provided, single submitter clinical testing The p.Phe317fs variant in EDA has not been previously reported in individuals or any other families with clinical features of X-linked hypohidrotic extodermal d ysplasia (XLHED) and was absent from large population studies. This variant is p redicted to cause a frameshift, which alters the protein?s amino acid sequence b eginning at position 317 and leads to a premature termination codon 57 amino aci ds downstream. This alteration is then predicted to lead to a truncated or absen t protein. Heterozygous loss of function of function of the EDA gene is an estab lished disease mechanism in XLHED. In summary, this variant meets our criteria t o be classified as pathogenic for XLHED in an X-linked manner (http://www.partne rs.org/personalizedmedicine/LMM).

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