ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met) (rs368867993)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000152233 SCV000201029 uncertain significance not specified 2016-05-06 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ile20720Met v ariant in TTN has been identified by our laboratory in 1 Hispanic individual wit h LVNC and Ebstein's anomaly and 1 individual with neonatal onset cardiomyopathy . However, the individual with neonatal onset cardiomyopathy carried 2 pathogeni c variants in another gene that were sufficient to explain their disease. This v ariant has also been identified in 0.1% (10/9520) of African chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs3688 67993). Computational prediction tools and conservation analysis suggest that th e variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the p.Ile20720Met variant is uncertain, these data suggest that it is more like ly to be benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723936 SCV000203696 uncertain significance not provided 2018-09-11 criteria provided, single submitter clinical testing
Invitae RCV000723936 SCV000643592 likely benign not provided 2019-02-18 criteria provided, single submitter clinical testing
GeneDx RCV000152233 SCV000730899 likely benign not specified 2018-03-13 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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