ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter)

dbSNP: rs397515750
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV003236772 SCV003935927 likely pathogenic 3-Methylglutaconic aciduria type 2 2021-04-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003236772 SCV004299705 uncertain significance 3-Methylglutaconic aciduria type 2 2024-08-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln275*) in the TAZ gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 18 amino acid(s) of the TAZ protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of TAZ-related conditions (PMID: 33500567; external communication). ClinVar contains an entry for this variant (Variation ID: 42269). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035102 SCV000058742 likely pathogenic Primary dilated cardiomyopathy 2008-04-24 no assertion criteria provided clinical testing

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