ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5929G>A (p.Val1977Met)

dbSNP: rs876658075
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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 RCV000215036 SCV000272729 uncertain significance not specified 2015-06-03 criteria provided, single submitter clinical testing The p.Val1977Met variant in TTN has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. Computational prediction tools and conservation analysis suggest that the p.Val1977Met variant may impact the protein, though this information is not predictive enough to det ermine pathogenicity. In summary, the clinical significance of the p.Val1977Met variant is uncertain.

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