ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.272dup (p.Ser91fs)

dbSNP: rs397516656
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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, Mass General Brigham Personalized Medicine RCV000037163 SCV000060820 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2011-09-17 criteria provided, single submitter clinical testing The Ser91fs variant in EDA has not been reported in the literature nor previousl y identified by our laboratory. This frameshift variant is predicted to alter t he protein?s amino acid sequence beginning at position 91 and lead to a prematur e termination codon 9 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Heterozygous loss of function of the E DA gene is an established disease mechanism in XLHED. In summary, this variant m eets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM) .
Labcorp Genetics (formerly Invitae), Labcorp RCV000037163 SCV004330161 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2023-11-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser91Argfs*9) in the EDA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EDA are known to be pathogenic (PMID: 9683615). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EDA-related conditions. ClinVar contains an entry for this variant (Variation ID: 44187). For these reasons, this variant has been classified as Pathogenic.

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