ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5192A>G (p.Asp1731Gly)

gnomAD frequency: 0.00003  dbSNP: rs876658072
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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 RCV000219233 SCV000272707 uncertain significance not specified 2016-03-18 criteria provided, single submitter clinical testing The p.Asp1731Gly 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.Asp1731Gly 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.Asp1731Gly variant is unc ertain.

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