ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.754_763del (p.Leu252fs)

dbSNP: rs1557194381
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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 RCV000531914 SCV000635076 uncertain significance 3-Methylglutaconic aciduria type 2 2020-01-15 criteria provided, single submitter clinical testing This sequence change deletes 10 nucleotides from exon 10 of the TAZ mRNA (c.754_763delCTCCGGGCGG), causing a frameshift at codon 252. This creates a premature translational stop signal in the last exon of the TAZ mRNA (p.Leu252Argfs*12). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 41 amino acids of the TAZ protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a TAZ-related disease. Experimental studies have not been reported for this truncating variant and it is currently unknown if the last 41 amino acids of the TAZ protein are critical for its function. In summary, this is a novel truncation with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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