ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.19282A>T (p.Ser6428Cys)

dbSNP: rs727505137
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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 RCV000156600 SCV000206319 uncertain significance not specified 2014-06-30 criteria provided, single submitter clinical testing The Ser5184Cys variant in TTN has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. In summary, the clinical significance of the Ser5184Cys varia nt is uncertain.
Mayo Clinic Laboratories, Mayo Clinic RCV002260998 SCV002541977 uncertain significance not provided 2021-07-08 criteria provided, single submitter clinical testing

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