ClinVar Miner

Submissions for variant NM_000116.5(TAZ):c.347G>A (p.Gly116Asp) (rs727504327)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154422 SCV000204090 likely pathogenic 3-Methylglutaconic aciduria type 2; Primary dilated cardiomyopathy 2012-08-10 criteria provided, single submitter clinical testing The Gly116Asp variant in TAZ has been identified in 2 individuals with Barth syn drome (LMM unpublished data, www.barthsyndrome.org) and has not been identified in large and broad European American and African American populations by the NHL BI Exome Sequencing Project (http://evs.gs.washington.edu/EVS). This low frequen cy is consistent with a disease causing role. In addition, functional studies in yeast showed an effect of this variant though this assay may not accurately rep resent biological function in humans (Claypool 2011). Computational analyses (bi ochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) s uggest that the Gly116Asp variant may impact the protein, though this informatio n is not predictive enough to determine pathogenicity. Finally, the presence of a TAZ variant is consistent with the clinical diagnosis of Barth syndrome in thi s individual's son and most TAZ variants are pathogenic (www.barthsyndrome.org). In summary, this variant is likely to be pathogenic, though additional studies are required to fully establish its clinical significance.

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