ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter)

dbSNP: rs1603377945
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000791613 SCV000930871 pathogenic 3-Methylglutaconic aciduria type 2 2018-12-27 criteria provided, single submitter clinical testing This variant disrupts the p.Gly216 amino acid residue in TAZ. Other variant(s) that disrupt this residue have been observed in individuals with TAZ-related conditions (PMID: 24887148, 16880272, 9382096, 23656970, 23361305), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. This variant has been observed in an individual affected with Barth syndrome (PMID: 14662265). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly124*) 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). For these reasons, this variant has been classified as Pathogenic.
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV000791613 SCV003935883 pathogenic 3-Methylglutaconic aciduria type 2 2020-06-24 criteria provided, single submitter clinical testing

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