ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.385C>T (p.Gln129Ter)

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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 RCV003057913 SCV003353602 uncertain significance 3-Methylglutaconic aciduria type 2 2024-11-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln129*) in the TAZ gene. Alternative splicing of the TAZ gene results in a functional isoform lacking exon 5 (delta5) in multiple human tissues (PMID: 19619503, 24342716, 12930833, 19700766). Therefore, the functional significance of variants in exon 5 is currently unknown. This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with TAZ-related conditions. ClinVar contains an entry for this variant (Variation ID: 2129113). 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.

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