ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.62644A>G (p.Thr20882Ala)

gnomAD frequency: 0.00001  dbSNP: rs538308579
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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 RCV000156830 SCV000206551 uncertain significance not specified 2014-09-17 criteria provided, single submitter clinical testing The Thr18314Ala variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. In summary, the clinical significance of the Thr18314Ala vari ant is uncertain.
Invitae RCV000557784 SCV000643488 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-03-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492603 SCV002781155 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 2021-07-07 criteria provided, single submitter clinical testing

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