ClinVar Miner

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

dbSNP: rs1569552731
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000678752 SCV000942783 pathogenic 3-Methylglutaconic aciduria type 2 2023-04-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 560626). This premature translational stop signal has been observed in individuals with Barth syndrome (PMID: 16873891, 23409742, 28183324; Invitae). This variant is not present in population databases (gnomAD no frequency). 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. Loss-of-function variants in TAZ are known to be pathogenic (PMID: 16427346, 22382802, 23409742).
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

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