Submissions for variant NM_000116.5(TAFAZZIN):c.154G>T (p.Glu52Ter)

dbSNP: rs794729166

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000183906	SCV000236392	pathogenic	not provided	2013-05-03	criteria provided, single submitter	clinical testing	p.Glu52Stop (GAG>TAG): c.154 G>T in exon 2 of the TAZ gene (NM_000116.3). The Glu52Stop mutation in the TAZ gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Glu52Stop is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense mutations in the TAZ gene, including one affecting a neighboring residue, Tyr51Stop, have been reported in association with Barth syndrome. The Glu52Stop mutation was not observed in approximately 5,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Glu52Stop has been observed in other unrelated individuals at GeneDx. In summary, Glu52Stop in the TAZ gene is interpreted as a disease-causing mutation. The variant is found in DCM panel(s).
Labcorp Genetics (formerly Invitae), Labcorp	RCV005089930	SCV005841735	pathogenic	3-Methylglutaconic aciduria type 2	2024-11-19	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Glu52*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TAZ-related conditions. ClinVar contains an entry for this variant (Variation ID: 202091). For these reasons, this variant has been classified as Pathogenic.