ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81881T>G (p.Val27294Gly)

dbSNP: rs876658084
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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 RCV000216948 SCV000272772 uncertain significance not specified 2014-12-23 criteria provided, single submitter clinical testing The p.Val24726Gly 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 do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Val24726Gly variant is uncertain.

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