ClinVar Miner

Submissions for variant NM_000116.5(TAZ):c.697C>T (p.Gln233Ter) (rs1603381860)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819778 SCV000960458 pathogenic 3-Methylglutaconic aciduria type 2 2019-01-09 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Barth syndrome (PMID: 9345098). 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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