Submissions for variant NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter)

dbSNP: rs1603381860

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000819778	SCV000960458	pathogenic	3-Methylglutaconic aciduria type 2	2018-12-22	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TAZ are known to be pathogenic (PMID: 16427346, 22382802, 23409742). This variant has been observed in an individual affected with Barth syndrome (PMID: 9345098). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln233*) in the TAZ gene. It is expected to result in an absent or disrupted protein product.
PreventionGenetics, part of Exact Sciences	RCV004723241	SCV005337503	pathogenic	TAFAZZIN-related disorder	2024-06-25	no assertion criteria provided	clinical testing	The TAFAZZIN c.697C>T variant is predicted to result in premature protein termination (p.Gln233*). This variant has been reported in an individual with Barth syndrome (Johnston et al. 1997. PubMed ID: 9345098). This variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in TAFAZZIN are expected to be pathogenic. This variant is interpreted as pathogenic.