ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.605_631del (p.Ile202_Gly210del) (rs1602618255)

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 RCV000823338 SCV000964192 uncertain significance Hypohidrotic X-linked ectodermal dysplasia 2018-09-19 criteria provided, single submitter clinical testing This variant, c.605_631del, results in the deletion of 9 amino acid(s) of the EDA protein (p.Ile202_Gly210del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a EDA-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant disrupts the p.Pro206 amino acid residue in EDA. Other variant(s), including a smaller deletion p.Ile205_Gly210del, that disrupt this residue have been observed in affected individuals (PMID: 23991204, Invitae), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.