ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.49258G>A (p.Glu16420Lys)

gnomAD frequency: 0.00001  dbSNP: rs764682084
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Total submissions: 2
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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 RCV000215401 SCV000272666 uncertain significance not specified 2015-05-27 criteria provided, single submitter clinical testing The p.Glu13852Lys variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been indentified in 3/66084 European chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Compu tational prediction tools and conservation analysis suggest that the p.Glu13852L ys variant may impact the protein, though this information is not predictive eno ugh to determine pathogenicity. In summary, the clinical significance of the p.G lu13852Lys variant is uncertain.
Invitae RCV000474421 SCV000542951 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-09-04 criteria provided, single submitter clinical testing

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