ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter) (rs587780490)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118769 SCV000153309 pathogenic Tibial muscular dystrophy 2013-12-23 criteria provided, single submitter clinical testing
Invitae RCV001053412 SCV001217671 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-11-19 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the TTN gene (p.Arg1683*). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated TTN protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 130673). This variant is located in the Z band of TTN (PMID: 25589632). Variants in this region may be relevant for human disease, but have not been definitively shown to cause cardiomyopathy or neuromuscular disease (PMID: 23975875). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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