ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.236_238+5del

dbSNP: rs2068331233
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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 RCV001044975 SCV001208801 likely pathogenic 3-Methylglutaconic aciduria type 2 2023-12-21 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 2 (c.236_238+5del) of the TAZ gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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 is not present in population databases (gnomAD no frequency). 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: 842542). 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.

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