ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.52004G>A (p.Arg17335His) (rs367603302)

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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 RCV000725162 SCV000334579 uncertain significance not provided 2015-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000213905 SCV000237275 likely benign not specified 2018-02-05 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 RCV000643263 SCV000764950 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000213905 SCV000272677 uncertain significance not specified 2015-04-23 criteria provided, single submitter clinical testing The p.Arg14767His variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/9444 of African chromosomes b y the Exome Aggregation Consortium (ExAC,; dbSNP rs367603302). Computational prediction tools and conservation analysis suggest t hat this variant may not impact the protein, though this information is not pred ictive enough to rule out pathogenicity. In summary, the clinical significance o f the p.Arg14767His variant is uncertain.

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