ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18653T>G (p.Leu6218Arg)

gnomAD frequency: 0.00006  dbSNP: rs727505193
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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 RCV000156683 SCV000206404 uncertain significance not specified 2014-07-14 criteria provided, single submitter clinical testing The Leu4974Arg variant in TTN has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impac t to the protein. In summary, the clinical significance of the Leu4974Arg varian t is uncertain.

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