ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter)

dbSNP: rs1298362744
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000853287 SCV000996124 pathogenic 3-Methylglutaconic aciduria type 2 2018-04-05 criteria provided, single submitter clinical testing This variant is predicted to result in a premature termination codon, leading to loss of protein abundance or activity. This particular variant has not been observed in affected individuals, but other null variants have been associated with Barth syndrome (MIM: 302060) (PMID: 23398819, 23100323). This variant is absent from ExAC and gnomAD population databases. Based on the combined evidence, the c.811C>T p.Gln271Ter variant is classified as pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV000853287 SCV001433730 uncertain significance 3-Methylglutaconic aciduria type 2 2018-04-10 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the TAZ gene (p.Gln271*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 22 amino acids of the TAZ protein. 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 disease. 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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