ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.42056G>A (p.Arg14019His) (rs374683153)

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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,Partners HealthCare Personalized Medicine RCV000155835 SCV000205546 uncertain significance not specified 2014-03-19 criteria provided, single submitter clinical testing The Arg11451His variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 1/8184 European American chromoso mes by the NHLBI Exome Sequencing Project ( C omputational prediction tools and conservation analysis suggest that this varian t may impact the protein, though this information is not predictive enough to de termine pathogenicity. Additional information is needed to fully assess the clin ical significance of this variant.
Invitae RCV000463510 SCV000555564 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000155835 SCV000719322 likely benign not specified 2017-05-10 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.

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