ClinVar Miner

Submissions for variant NM_000116.5(TAZ):c.708_709TG[1] (p.Val237fs) (rs727504394)

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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 RCV000154564 SCV000204237 pathogenic 3-Methylglutaconic aciduria type 2; Primary dilated cardiomyopathy 2011-06-21 criteria provided, single submitter clinical testing The Val237fs variant has been reported in the Barth syndrome database although n o clinical data are available (http://www.barthsyndrome.org/). This variant is p redicted to cause a frameshift in the protein's amino acid sequence beginning at codon 237 and altering the remaining 56 amino acids, as well as including an ad ditional 17 amino acids. The severity of this alteration makes it highly likely that this variant is pathogenic. In addition, our laboratory has identified this variant in one proband with features consistent with Barth syndrome. In this pr oband, the variant had occurred de novo, which further supports a pathogenic rol e. In summary, this variant fulfills our pathogenicity criteria based on de novo occurrence, predicted impact of the variant on the protein as well as consisten cy of this individual?s clinical presentation with the presence of a TAZ variant .

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