ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.80542G>C (p.Glu26848Gln)

gnomAD frequency: 0.00001  dbSNP: rs898433512
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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 RCV000613871 SCV000712112 uncertain significance not specified 2016-05-27 criteria provided, single submitter clinical testing The p.Glu24280Gln variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction to ols and conservation analysis suggest that the p.Glu24280Gln variant may impact the protein, though this information is not predictive enough to determine patho genicity. In summary, the clinical significance of the p.Glu24280Gln variant is uncertain.
Invitae RCV000643243 SCV000764930 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498889 SCV002816026 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 2021-08-17 criteria provided, single submitter clinical testing

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