ClinVar Miner

Submissions for variant NM_000116.5(TAZ):c.700-1G>A (rs397515747)

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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 RCV000035098 SCV000058738 pathogenic 3-Methylglutaconic aciduria type 2 2017-05-18 criteria provided, single submitter clinical testing The c.700-1G>A variant in TAZ has been previously reported in one individual wit h a diagnosis and family history of Barth Syndrome (Rigaud 2013). It has also be en identified by our laboratory in the hemizygous state in 2 individuals with cl inical features of Barth Syndrome. This variant occurs in the invariant region ( +/- 1,2) of the splice consensus sequence and is expected to cause altered splic ing, leading to an abnormal or absent protein. Loss of TAZ gene function is an e stablished mechanism for Barth syndrome. In summary, the c.700-1G>A variant meet s criteria to be classified as pathogenic based its presence in multiple affecte d individuals with specific clinical features, extremely low frequency in the ge neral population, and the predicted impact of splicing defect on the protein.

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