ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.41G>T (p.Ser14Ile)

dbSNP: rs771027745
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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 RCV000217615 SCV000272661 uncertain significance not specified 2015-04-04 criteria provided, single submitter clinical testing The p.Ser14Ile variant in TTN has not been reported in individuals with cardiomy opathy, but has been identified in 1/65982 European chromosomes by the Exome Agg regation Consortium (ExAC, http://exac.broadinstitute.org). Computational predic tion tools and conservation analysis do not provide strong support for or agains t an impact to the protein. In summary, the clinical significance of the p.Ser14 Ile variant is uncertain.
Eurofins Ntd Llc (ga) RCV000726334 SCV000343844 uncertain significance not provided 2016-09-05 criteria provided, single submitter clinical testing

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