ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.280C>G (p.Arg94Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV003237278 SCV003935919 likely pathogenic 3-Methylglutaconic aciduria type 2 2020-07-08 criteria provided, single submitter clinical testing
KardioGenetik, Herz- und Diabeteszentrum NRW RCV003237278 SCV005881446 likely pathogenic 3-Methylglutaconic aciduria type 2 2025-01-15 criteria provided, single submitter clinical testing The TAZ gene encodes for Tafazzin, a mitochondrial acyltransferase is involved in the biogenesis of cardiolipin. This phospholipid is located in the mitochondrial membrane, where it stabilizes proteins essential for oxidative phosphorylation. Variants in the TAZ gene cause Barth syndrome, an X-linked disorder with a highly variable phenotype, including dilated cardiomyopathy, hypertrophic cardiomyopathy, skeletal muscle myopathy, and neutropenia. The variant listed in the Human Gene Mutation Database (HGMD) was first described by Steward et al. (PMID: 20812380) in 2010 in a family with Barth syndrome. Data on the allele frequency of this variant in normal population cohorts is not available according to the gnomAD database. The assessment of the amino acid substitution Arg94Gly using the bioinformatic meta-prediction tool REVEL indicates it is harmful. Additionally, the pathogenicity of the variant is supported by the presence of other likely pathogenic or pathogenic amino acid substitutions at the same amino acid position. (PM5, PM2_supporting, PP3_moderate, PP4)

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