ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.542-2A>G

dbSNP: rs2068574381
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061185 SCV001225918 likely pathogenic 3-Methylglutaconic aciduria type 2 2021-02-18 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 6 of the TAZ gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TAZ are known to be pathogenic (PMID: 16427346, 22382802, 23409742). This variant has not been reported in the literature in individuals with TAZ-related conditions. This variant is not present in population databases (ExAC no frequency).

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