ClinVar Miner

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

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727127 SCV000706006 uncertain significance not provided 2017-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621653 SCV000735488 likely benign Cardiovascular phenotype 2018-11-23 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
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.
Invitae RCV001087265 SCV001007170 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170578 SCV001333166 benign Cardiomyopathy 2018-05-02 criteria provided, single submitter clinical testing

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