ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.460+5G>A

gnomAD frequency: 0.00001  dbSNP: rs1325571965
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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 RCV001217162 SCV001388995 uncertain significance 3-Methylglutaconic aciduria type 2 2024-09-04 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the TAZ gene. It does not directly change the encoded amino acid sequence of the TAZ protein. It affects a nucleotide within the consensus splice site. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 946319). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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.
GeneDx RCV004768925 SCV005376584 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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