ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys) (rs72677229)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724743 SCV000226995 uncertain significance not provided 2017-10-09 criteria provided, single submitter clinical testing
GeneDx RCV000259187 SCV000237203 likely benign not specified 2018-01-31 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.
Invitae RCV000231768 SCV000286677 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000259187 SCV000710957 uncertain significance not specified 2016-04-14 criteria provided, single submitter clinical testing The p.Arg12916Lys variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 14/66128 European chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs72677229). Computational prediction tools and conservation analysis suggest th at the p.Arg12916Lys variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical signi ficance of the p.Arg12916Lys variant is uncertain.

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