ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.50452G>A (p.Glu16818Lys) (rs397517600)

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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 RCV000040315 SCV000064006 uncertain significance not specified 2015-03-11 criteria provided, single submitter clinical testing The p.Glu14250Lys 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% (28/66612) of European chromosomes by the Exome Aggregation Consortium (ExAC, h ttp://; dbSNP rs397517600). Computational prediction tool s and conservation analysis suggest that this variant may impact the protein, th ough this information is not predictive enough to determine pathogenicity. In su mmary, the clinical significance of the p.Glu14250Lys variant is uncertain.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726235 SCV000701310 uncertain significance not provided 2017-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618209 SCV000735483 likely benign Cardiovascular phenotype 2018-11-23 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;In silico models in agreement (benign)
Invitae RCV001086999 SCV000764547 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000726235 SCV000982651 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001170833 SCV001333453 benign Cardiomyopathy 2018-05-02 criteria provided, single submitter clinical testing

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