ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.15283T>C (p.Tyr5095His)

gnomAD frequency: 0.00003  dbSNP: rs557767596
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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, Mass General Brigham Personalized Medicine RCV000614424 SCV000712115 uncertain significance not specified 2016-05-18 criteria provided, single submitter clinical testing The p.Tyr5095His variant in TTN has been identified by our laboratory in one ind ividual with early onset severe left ventricular dysfunction and biventricular d ilation. This variant was absent from large population studies. Computational pr ediction tools and conservation analysis are limited or unavailable for this var iant. In summary, the clinical significance of the p.Tyr5095His variant is uncer tain.

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