ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.1100delinsTCAAGATGG (p.Ala367fs) (rs1556110934)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553050 SCV000630020 likely pathogenic Hypohidrotic X-linked ectodermal dysplasia 2017-05-25 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide and inserts 9 nucleotides in exon 8 of the EDA mRNA (c.1100delinsTCAAGATGG), causing a frameshift at codon 367. This creates a premature translational stop signal in the last exon of the EDA mRNA (p.Ala367Valfs*10). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt 25 amino acids of the EDA protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a EDA-related disease. A different variant downstream of this variant (p.Thr378Met) has been determined to be pathogenic (PMID: 11279189, 24648697, 11378824, 12991204). This suggests that deletion of this region of the EDA protein is causative of disease. In summary, this variant is a rare truncation that is upstream of a different pathogenic change in the EDA protein. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.