ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2143A>G (p.Arg715Gly)

dbSNP: rs727505258
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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 RCV000156781 SCV000206502 uncertain significance not specified 2014-09-08 criteria provided, single submitter clinical testing The Arg715Gly variant in TTN has not been previously reported in individuals wit h cardiomyopathy and was absent from large population studies. Computational pre diction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogen icity. In summary, the clinical significance of the Arg715Gly variant is uncerta in.

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