ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.99273A>G (p.Ile33091Met)

dbSNP: rs746305727
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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 RCV000602748 SCV000712027 uncertain significance not specified 2016-04-27 criteria provided, single submitter clinical testing The p.Ile30523Met variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction to ols and conservation analysis suggest that the p.Ile30523Met 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.Ile30523Met variant is uncertain.

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