ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64774A>G (p.Ile21592Val)

dbSNP: rs727503581
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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 RCV000152256 SCV000201081 uncertain significance not specified 2014-10-10 criteria provided, single submitter clinical testing The p.Ile19024Val variant in TTN gene has not been previously reported in indivi duals with cardiomyopathy or in large population studies. Isoleucine (Ile) at po sition 19024 is highly conserved in the majority of mammals and lower species, t hough dolphin and killer whale carry a valine (Val) at this position, raising th e possibility that this change may be tolerated. Additional computational predic tion tools do not provide strong support for or against an impact to the protein . In summary, the clinical significance of the p.Ile19024Val variant is uncertai n.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000152256 SCV002051413 uncertain significance not specified 2021-12-28 criteria provided, single submitter clinical testing

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