ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) (rs199640194)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000213221 SCV000605483 uncertain significance not specified 2016-12-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724914 SCV000332387 uncertain significance not provided 2015-10-23 criteria provided, single submitter clinical testing
GeneDx RCV000213221 SCV000237215 likely benign not specified 2017-04-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000459255 SCV000543061 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000213221 SCV000272657 uncertain significance not specified 2015-10-26 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg13270Gln v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been identified in 32/66627 European chromosomes by the Exome Aggrega tion Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs199640194). Argin ine (Arg) at position 39809 is not conserved in evolutionarily distant species a nd 5 different reptile species carry a Glutamine (Gln), raising the possibility that this change may be tolerated. Additional computational prediction tools sug gest that the p.Arg13270Gln variant may not impact the protein, though this info rmation is not predictive enough to rule out pathogenicity. In summary, while th e clinical significance of the p.Arg13270Gln variant is uncertain, these data su ggest that it is more likely to be benign.

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