ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54493C>T (p.Arg18165Cys)

gnomAD frequency: 0.00002  dbSNP: rs377575788
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Total submissions: 3
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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 RCV000222774 SCV000272688 uncertain significance not specified 2016-03-18 criteria provided, single submitter clinical testing The p.Arg15597Cys variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/15394 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSN P rs377575788). 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 p.Arg15597Cys variant is uncertain.
Eurofins Ntd Llc (ga) RCV000727426 SCV000708455 uncertain significance not provided 2017-05-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000727426 SCV003826561 uncertain significance not provided 2021-02-24 criteria provided, single submitter clinical testing

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