Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000791613 | SCV000930871 | pathogenic | 3-Methylglutaconic aciduria type 2 | 2018-12-27 | criteria provided, single submitter | clinical testing | This variant disrupts the p.Gly216 amino acid residue in TAZ. Other variant(s) that disrupt this residue have been observed in individuals with TAZ-related conditions (PMID: 24887148, 16880272, 9382096, 23656970, 23361305), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. This variant has been observed in an individual affected with Barth syndrome (PMID: 14662265). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly124*) in the TAZ gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TAZ are known to be pathogenic (PMID: 16427346, 22382802, 23409742). For these reasons, this variant has been classified as Pathogenic. |
Molecular Diagnostics Lab, |
RCV000791613 | SCV003935883 | pathogenic | 3-Methylglutaconic aciduria type 2 | 2020-06-24 | criteria provided, single submitter | clinical testing |