ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.295A>G (p.Asn99Asp)

gnomAD frequency: 0.00005  dbSNP: rs150665982
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703667 SCV000520805 likely benign not provided 2019-05-15 criteria provided, single submitter clinical testing
Invitae RCV001066899 SCV001231922 uncertain significance Mowat-Wilson syndrome 2023-10-07 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 99 of the ZEB2 protein (p.Asn99Asp). This variant is present in population databases (rs150665982, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with ZEB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 381504). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is not expected to disrupt ZEB2 function. 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.
Genome-Nilou Lab RCV001066899 SCV002045612 likely benign Mowat-Wilson syndrome 2021-11-07 criteria provided, single submitter clinical testing

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.