ClinVar Miner

Submissions for variant NM_000116.5(TAZ):c.367C>T (p.Arg123Ter) (rs1569552731)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678752 SCV000804928 pathogenic 3-Methylglutaconic aciduria type 2 2016-04-25 no assertion criteria provided clinical testing
Invitae RCV000678752 SCV000942783 pathogenic 3-Methylglutaconic aciduria type 2 2018-10-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg123*) in the TAZ gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Barth syndrome (PMID: 16873891, 28183324, 23409742). 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.

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