ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.46773T>A (p.Tyr15591Ter)

dbSNP: rs397517586
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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 RCV000040273 SCV000063964 likely pathogenic Primary dilated cardiomyopathy 2013-07-05 criteria provided, single submitter clinical testing The Tyr13023X variant in TTN has been identified by our laboratory in 1 Caucasia n individual with DCM (LMM unpublished data) and was not identified in large pop ulation studies. This nonsense variant leads to a premature termination codon at position 13023, which is predicted to lead to a truncated or absent protein. He terozygous loss of function of the TTN gene is strongly associated with DCM (Her man 2012). In summary, this variant is likely to be pathogenic, though additiona l data is needed to establish this with confidence.

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