ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.27886+5T>C

gnomAD frequency: 0.00001  dbSNP: rs876658050
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Total submissions: 2
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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 RCV000217144 SCV000272612 uncertain significance not specified 2015-03-24 criteria provided, single submitter clinical testing The c.24154+5T>C variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant is located in t he 5' splice region. Computational tools do not suggest an impact to splicing. H owever, this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.24154+5T>C variant is uncertain.
Invitae RCV000542275 SCV000642914 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-06 criteria provided, single submitter clinical testing

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