ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.109+5G>A

dbSNP: rs2148185111
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Total submissions: 2
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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, Nemours Children's Health, Delaware RCV001385891 SCV003935925 likely pathogenic 3-Methylglutaconic aciduria type 2 2023-02-02 criteria provided, single submitter clinical testing

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