ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.55417A>G (p.Arg18473Gly) (rs72646822)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727052 SCV000237318 likely benign not provided 2021-02-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000222884 SCV000272691 uncertain significance not specified 2015-11-13 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg15905Gly v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been identified in 0.2% (23/9766) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs72646822) . Computational prediction tools and conservation analysis suggest that the p.Ar g15905Gly variant may impact the protein, though this information is not predict ive enough to determine pathogenicity. In summary, while the clinical significan ce of the p.Arg15905Gly variant is uncertain, its frequency suggests that it is more likely to be benign.
Invitae RCV001086041 SCV000643380 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727052 SCV000705221 uncertain significance not provided 2017-08-03 criteria provided, single submitter clinical testing

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