ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.67683G>C (p.Leu22561Phe)

dbSNP: rs876658076
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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 RCV000215824 SCV000272732 uncertain significance not specified 2015-06-12 criteria provided, single submitter clinical testing The p.Leu19993Phe variant in TTN has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. Computational prediction tools and conservation analysis suggest that the variant may not imp act the protein, though this information is not predictive enough to rule out pa thogenicity. In summary, the clinical significance of the p.Leu19993Phe variant is uncertain.

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