ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.238+6C>T

dbSNP: rs781786197
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818250 SCV000958851 uncertain significance 3-Methylglutaconic aciduria type 2 2022-10-05 criteria provided, single submitter clinical testing This sequence change falls in intron 2 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: 660945). 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 is not likely to affect RNA splicing. 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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