ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49942A>G (p.Lys16648Glu)

dbSNP: rs727505156
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Total submissions: 2
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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 RCV000156625 SCV000206346 uncertain significance not specified 2014-07-01 criteria provided, single submitter clinical testing The Lys14080Glu variant in TTN has not been previously reported in individuals w ith cardiomyopathy. Data from large population studies is insufficient to assess the frequency of this variant. 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 Lys14080Glu variant is uncertain.
Revvity Omics, Revvity RCV003137683 SCV003821018 uncertain significance not provided 2022-12-14 criteria provided, single submitter clinical testing

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