Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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, |
RCV000035088 | SCV003935941 | uncertain significance | 3-Methylglutaconic aciduria type 2 | 2020-06-25 | criteria provided, single submitter | clinical testing |