ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11672C>T (p.Thr3891Ile) (rs148164929)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725031 SCV000333368 uncertain significance not provided 2018-09-12 criteria provided, single submitter clinical testing
GeneDx RCV000041080 SCV000238166 likely benign not specified 2018-02-01 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 RCV000461549 SCV000555524 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-19 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041080 SCV000064771 uncertain significance not specified 2015-04-18 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Thr3653Ile in TTN has been previously identified by our laboratory in 1 Caucasian infant with DCM and 1 Black adult with HCM. This variant has also been identified in 0.16% (16/9802) of African chromosomes by the Exome Aggregation Consortium (ExAC, http ://exac.broadinstitute.org; dbSNP rs148164929). Computational prediction tools a nd conservation analysis suggest that this variant may not impact the protein, t hough this information is not predictive enough to rule out pathogenicity. In su mmary, while the clinical significance of the p.Thr3653Ile variant is uncertain, its frequency suggests that it is more likely to be benign.

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