ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.497del (p.Ala166fs)

dbSNP: rs2147419276
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001383921 SCV001583249 pathogenic Hypohidrotic X-linked ectodermal dysplasia 2020-01-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EDA are known to be pathogenic (PMID: 9683615). This variant has not been reported in the literature in individuals with EDA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala166Glufs*114) in the EDA gene. It is expected to result in an absent or disrupted protein product.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001806162 SCV002051743 pathogenic not provided 2021-02-01 criteria provided, single submitter clinical testing PVS1, PS2, PM2

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.