ClinVar Miner

Submissions for variant NM_014795.4(ZEB2):c.314C>T (p.Ala105Val)

dbSNP: rs730881207
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 RCV000159490 SCV000209443 likely benign not specified 2016-07-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001318859 SCV001509577 uncertain significance Mowat-Wilson syndrome 2020-02-02 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ZEB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 181750). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 105 of the ZEB2 protein (p.Ala105Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine.
Genome-Nilou Lab RCV001318859 SCV002045610 uncertain significance 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.