ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.575del (p.Phe192fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003052004 SCV003343025 pathogenic 3-Methylglutaconic aciduria type 2 2022-04-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe192Serfs*8) 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. This variant has not been reported in the literature in individuals affected with TAZ-related conditions. This variant is not present in population databases (gnomAD no frequency).

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