ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44390A>G (p.Tyr14797Cys)

dbSNP: rs876658060
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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 RCV000220300 SCV000272650 uncertain significance not specified 2015-03-30 criteria provided, single submitter clinical testing The p.Tyr12229Cys variant in TTN not been previously reported in individuals wit h cardiomyopathy or in large population studies. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Tyr12229Cys vari ant is uncertain.

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