ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17669G>C (p.Ser5890Thr)

gnomAD frequency: 0.00001  dbSNP: rs775293848
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Total submissions: 4
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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 RCV000220105 SCV000272590 uncertain significance not specified 2015-10-01 criteria provided, single submitter clinical testing The p.Ser4646Thr variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 6/11568 of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Comput ational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Ser4646Thr variant is uncertain.
Invitae RCV000466015 SCV000542538 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-04-10 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731115 SCV000858892 uncertain significance not provided 2018-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002485400 SCV002786412 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-07-05 criteria provided, single submitter clinical testing

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