ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.8685G>T (p.Glu2895Asp)

dbSNP: rs727503685
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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 RCV000152487 SCV000201627 uncertain significance not specified 2014-08-22 criteria provided, single submitter clinical testing The Glu2895Asp variant in TTN has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. In summary, the clinical significance of the Glu2895Asp varia nt is uncertain.

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