Submissions for variant NM_000116.5(TAFAZZIN):c.110-2A>G

dbSNP: rs1603376833

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000011858	SCV001585906	pathogenic	3-Methylglutaconic aciduria type 2	2020-09-16	criteria provided, single submitter	clinical testing	Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 9345098, 25652404). For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TAZ are known to be pathogenic (PMID: 16427346, 22382802, 23409742). This variant has been observed in individual(s) with clinical features of Barth syndrome (PMID: 9345098, 26845103). This variant is also known as 396-2A>G and IVS1–2A>G. This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 1 of the TAZ gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	RCV000011858	SCV003935908	pathogenic	3-Methylglutaconic aciduria type 2	2020-08-07	criteria provided, single submitter	clinical testing
OMIM	RCV000011858	SCV000032091	pathogenic	3-Methylglutaconic aciduria type 2	2001-03-06	no assertion criteria provided	literature only