ClinVar Miner

Submissions for variant NM_000116.5(TAZ):c.227C>G (p.Pro76Arg) (rs878853654)

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 RCV000230434 SCV000283511 likely pathogenic 3-Methylglutaconic aciduria type 2 2016-02-10 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 76 of the TAZ protein (p.Pro76Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TAZ-related disease. Family studies indicate this missense variant likely was not inherited from either parent (i.e. occurred de novo) in an individual with disease (Invitae database). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In conclusion, this variant is absent from population databases, is predicted to be deleterious, and was shown to have occurred de novo. For these reasons, this variant has a 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.