ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val)

dbSNP: rs727504431
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154666 SCV000204343 likely pathogenic 3-Methylglutaconic aciduria type 2; Primary dilated cardiomyopathy 2012-01-27 criteria provided, single submitter clinical testing The Gly216Val variant (TAZ) has not been reported in the literature nor previous ly identified by our laboratory. Glycine (Gly) at position 216 is highly conserv ed across evolutionarily distant species, increasing the likelihood that a chang e would not be tolerated. This is consistent with another pathogenic variant at this codon (Gly216Arg) that has been identified in individuals with Barth syndro me (D'Adamo 1997, Kuijpers 2004, Takeda 2011). In addition, computational tools (Polyphen2, SIFT) predict that a change to Glycine (Gly) would impact the protei n, though their accuracy is unknown. In summary, the available evidence for this variant supports a pathogenic role although additional data is needed to establ ish this with certainty.

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.