ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49649-11T>C

gnomAD frequency: 0.00005  dbSNP: rs727504474
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Total submissions: 6
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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 RCV000155602 SCV000205310 uncertain significance not specified 2013-04-02 criteria provided, single submitter clinical testing The 41945-11T>C variant in TTN has been identified by our laboratory in 1 infant with DCM (LMM unpublished data). This variant has not been identified in large European American and African American populations by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/), though it may be present in other populations. It is located in the 3' splice region. Computational tools do not s uggest an impact to splicing, though this information is not predictive enough t o rule out pathogenicity. Additional information is needed to fully assess the c linical significance of this variant.
GeneDx RCV001697150 SCV000725615 uncertain significance not provided 2024-04-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Located in the A-band region of TTN in which the majority of loss of function variants have been associated with autosomal dominant titinopathies (PMID: 22335739)
Labcorp Genetics (formerly Invitae), Labcorp RCV002056092 SCV002397254 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2025-01-14 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000155602 SCV001921283 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001697150 SCV001929529 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001697150 SCV001960116 likely benign not provided no assertion criteria provided clinical testing

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