ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.809del (p.Val270fs)

dbSNP: rs727503008
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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 RCV000150599 SCV000197888 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2013-09-20 criteria provided, single submitter clinical testing The Val270fs variant in EDA has not been reported in the literature nor previous ly identified by our laboratory. This frameshift variant is predicted to alter the protein?s amino acid sequence beginning at position 270 and lead to a premat ure termination codon 10 amino acids downstream. This alteration is then predict ed to lead to a truncated or absent protein. Heterozygous loss of function of fu nction of the EDA gene is an established disease mechanism in XLHED. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.pa rtners.org/LMM).

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