ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30296G>A (p.Cys10099Tyr)

dbSNP: rs1253569310
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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 RCV000607570 SCV000713322 uncertain significance not specified 2018-10-10 criteria provided, single submitter clinical testing The p.Cys8855Tyr variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction too ls and conservation analysis suggest that the p.Cys8855Tyr variant may impact th e protein, though this information is not predictive enough to determine pathoge nicity. In summary, the clinical significance of the p.Cys8855Tyr variant is unc ertain. ACMG/AMP Criteria applied: PM2, PP3.

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