ClinVar Miner

Submissions for variant NM_000116.5(TAZ):c.328T>C (p.Ser110Pro) (rs397515739)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035088 SCV000058728 likely pathogenic 3-Methylglutaconic aciduria type 2 2012-01-25 criteria provided, single submitter clinical testing The Ser110Pro variant is listed in the Human Tafazzin (TAZ) Gene Mutation & Vari ation Database as a de novo variant but no further information is available (www .barthsyndrome.org). Yeast studies have shown that this variant impacts protein function (Claypool 2011). The presence of a TAZ variant is consistent with this individual?s clinical diagnosis. In summary, this variant is highly likely to be pathogenic but additional data is needed to confirm this.

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