ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro)

dbSNP: rs397515739
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035088 SCV000058728 likely pathogenic 3-Methylglutaconic aciduria type 2 2012-01-25 criteria provided, single submitter clinical testing The Ser110Pro variant is listed in the Human Tafazzin (TAZ) Gene Mutation & Vari ation Database as a de novo variant but no further information is available (www .barthsyndrome.org). Yeast studies have shown that this variant impacts protein function (Claypool 2011). The presence of a TAZ variant is consistent with this individual?s clinical diagnosis. In summary, this variant is highly likely to be pathogenic but additional data is needed to confirm this.
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV000035088 SCV003935941 uncertain significance 3-Methylglutaconic aciduria type 2 2020-06-25 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.