ClinVar Miner

Submissions for variant NM_000116.5(TAZ):c.307T>C (p.Cys103Arg) (rs397515740)

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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 RCV000035089 SCV000058729 likely pathogenic 3-Methylglutaconic aciduria type 2 2012-06-01 criteria provided, single submitter clinical testing The Cys103Arg variant in TAZ has not been reported in the literature but has bee n identified by our laboratory in 1 individual with suspected Barth syndrome and segregated in one affected relative. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Cys103Arg variant may impact the protein, though this information is not predict ive enough to determine pathogenicity. The presence of a TAZ variant is consiste nt with a clinical diagnosis of Barth syndrome and most TAZ variants are pathoge nic (www.barthsyndrome.org). In summary, this variant is likely to be pathogenic , though additional segregation studies and functional analyses are required to establish this with certainty.

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