ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.35314G>A (p.Glu11772Lys)

gnomAD frequency: 0.00001  dbSNP: rs727505263
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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 RCV000156788 SCV000206509 uncertain significance not specified 2014-09-05 criteria provided, single submitter clinical testing The Glu10471Lys variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis suggest that the Glu10471Lys variant may not impact the protein, though this information is not predictive enough to rule out pathog enicity. In summary, the clinical significance of the Glu10471Lys variant is unc ertain.

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