ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.44282-6G>A

gnomAD frequency: 0.00014  dbSNP: rs372166634
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Total submissions: 5
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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 RCV000216049 SCV000272649 uncertain significance not specified 2015-01-28 criteria provided, single submitter clinical testing The c.36578-6G>A variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/9802 African chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs37 2166634). In addition, this variant is located in the 3' splice region and compu tational tools do not suggest an impact to splicing. However, this information i s not predictive enough to rule out pathogenicity. In summary, the clinical sign ificance of the c.36578-6G>A variant is uncertain.
Invitae RCV000528801 SCV000643185 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001697220 SCV000723099 likely benign not provided 2021-03-10 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000216049 SCV001919808 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001697220 SCV001954279 likely benign not provided no assertion criteria provided clinical testing

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