ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.15063A>C (p.Glu5021Asp)

gnomAD frequency: 0.00001  dbSNP: rs727503651
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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 RCV000152406 SCV000201424 uncertain significance not specified 2014-05-09 criteria provided, single submitter clinical testing The Glu3777Asp variant in TTN has not been previously reported in individual wit h cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis are uninformative. In summary, the clinical significan ce of the Glu3777Asp variant is uncertain.

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