Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001385891 | SCV001585905 | pathogenic | 3-Methylglutaconic aciduria type 2 | 2021-02-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing and is expected to lead to the loss of protein expression (PMID: 9345098, 25652404). This variant has been observed in individual(s) with Barth syndrome (PMID: 9345098, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 1 of the TAZ gene. It does not directly change the encoded amino acid sequence of the TAZ protein. RNA analysis indicates that this variant induces altered splicing and likely disrupts the C-terminus of the protein. |
Molecular Diagnostics Lab, |
RCV001385891 | SCV003935925 | likely pathogenic | 3-Methylglutaconic aciduria type 2 | 2023-02-02 | criteria provided, single submitter | clinical testing |