ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.20468T>G (p.Val6823Gly)

gnomAD frequency: 0.00002  dbSNP: rs529417675
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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 RCV000219742 SCV000272593 uncertain significance not specified 2015-03-19 criteria provided, single submitter clinical testing The p.Val5579Gly variant in TTN has not been previously reported in individuals with cardiomyopathy, but it has been identified in 5/16408 South Asian chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). C omputational prediction tools and conservation analysis do not provide strong su pport for or against an impact to the protein. In summary, the clinical signific ance of the p.Val5579Gly variant is uncertain.

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