ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala98_Ala99insTer)

dbSNP: rs2148191858
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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 RCV001389198 SCV001590467 pathogenic 3-Methylglutaconic aciduria type 2 2020-07-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala99*) in the TAZ gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TAZ-related conditions. Loss-of-function variants in TAZ are known to be pathogenic (PMID: 16427346, 22382802, 23409742). For these reasons, this variant has been classified as Pathogenic.

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