Submissions for variant NM_000116.5(TAFAZZIN):c.778-2A>G

dbSNP: rs876661112

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000216377	SCV000279558	likely pathogenic	not provided	2017-03-01	criteria provided, single submitter	clinical testing	Although the c.778-2 A>G variant has not been published as a pathogenic variant or as a benign variant to our knowledge, it has previously been reported in an external variant database, however additional information was not provided. This variant destroys the canonical splice acceptor site in intron 10 and is predicted to cause abnormal gene splicing. This variant is predicted to lead to either an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Other splice site variants in the TAZ gene have been reported in HGMD in association with Barth syndrome and LVNC, including a different variant affecting the same splice acceptor site (c.778-1 G>T) (Stenson et al., 2014). Furthermore, the c.778-2 A>G variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In summary, c.778-2 A>G in the TAZ gene is interpreted as a pathogenic variant.
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	RCV003236792	SCV003935922	likely pathogenic	3-Methylglutaconic aciduria type 2	2021-04-26	criteria provided, single submitter	clinical testing