ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.83575A>G (p.Lys27859Glu)

gnomAD frequency: 0.00003  dbSNP: rs761633407
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Total submissions: 3
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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 RCV000217171 SCV000272781 uncertain significance not specified 2015-04-01 criteria provided, single submitter clinical testing The p.Lys25291Glu variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 7/8526 East Asian chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Compu tational prediction tools do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Lys25291Glu vari ant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000476633 SCV000542960 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-10-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137818 SCV003827246 uncertain significance not provided 2023-04-26 criteria provided, single submitter clinical testing

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