ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.66917T>C (p.Ile22306Thr) (rs397517667)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621653 SCV000735488 uncertain significance Cardiovascular phenotype 2016-08-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727127 SCV000706006 uncertain significance not provided 2017-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000727127 SCV000982652 likely benign not provided 2018-03-21 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.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040514 SCV000064205 uncertain significance not specified 2015-03-11 criteria provided, single submitter clinical testing The p.Ile19738Thr variant in TTN has been identified by our laboratory in 1 Ashk enazi Jewish individual with HCM. This variant has also been identified in 0.04% (26/66514) of European chromosomes by the Exome Aggregation Consortium (ExAC, h ttp://exac.broadinstitute.org; dbSNP rs397517667). Isoleucine (Ile) at position 19738 is not conserved in evolution and 1 mammal (killer whale) carries a threon ine (Thr) at this position, raising the possibility that this change may be tole rated. In summary, the clinical significance of the p.Ile19738Thr variant is unc ertain.

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