ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) (rs201213901)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000118765 SCV000884775 uncertain significance not provided 2018-05-18 criteria provided, single submitter clinical testing The TTN c.45148C>T; p.Arg15050Cys variant is rare in the general population (<1% allele frequency in the Genome Aggregation Database) and have not been reported in the medical literature in association with dilated cardiomyopathy (DCM) or other TTN-related disease. The clinical relevance of rare missense variants in this gene, which are identified on average once per individual sequenced in affected populations (Herman 2012), is not well understood. While the clinical significance of such variants is considered uncertain, evidence suggests that the vast majority of missense variants do not contribute to the clinical outcome of DCM (Begay 2015). Given the available evidence, the clinical significance of the c.45148C>T; p.Arg15050Cys variant cannot be determined with certainty.
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000118765 SCV000051490 likely benign not provided 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118765 SCV000700961 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000040336 SCV000730383 likely benign not specified 2017-10-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000118765 SCV000153297 uncertain significance not provided 2013-10-08 criteria provided, single submitter clinical testing
Invitae RCV000457595 SCV000555523 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040336 SCV000064027 uncertain significance not specified 2015-05-21 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg15050Cys v ariant in TTN has been previously identified by our laboratory in 1 adult with D CM, who carried a likely pathogenic variant in another gene, and in 1 adult with HCM. This variant has been identified in 0.2% (146/66698) of European chromosom es by the Exome Aggregation Consortium (ExAC,; db SNP rs201213901). Computational prediction tools and conservation analysis sugge st that this variant may impact the protein, though this information is not pred ictive enough to determine pathogenicity. In summary, while the clinical signifi cance of the p.Arg15050Cys variant is uncertain, its frequency in the general po pulation suggests that it is more likely to be benign.

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