Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001844221 | SCV002104166 | pathogenic | 3-Methylglutaconic aciduria type 2 | 2022-01-17 | criteria provided, single submitter | clinical testing | Variant summary: TAZ c.583G>T (p.Gly195X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been reported in HGMD in association with Barth Syndrome. The variant was absent in 183336 control chromosomes. c.583G>T has been reported in the literature in individuals affected with Barth Syndrome (Ronvelia_2012, Lee_2013). One publication also reports the variant to result in the skipping of 12 amino acid in the longest isoform (Lee_2013). One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Mayo Clinic Laboratories, |
RCV000676908 | SCV000802723 | pathogenic | not provided | 2016-02-22 | no assertion criteria provided | clinical testing |