ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) (rs72629783)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000172604 SCV000615964 uncertain significance not provided 2017-09-19 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172604 SCV000051278 likely benign not provided 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769849 SCV000901275 uncertain significance Cardiomyopathy 2016-05-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172604 SCV000338012 uncertain significance not provided 2015-12-18 criteria provided, single submitter clinical testing
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia RCV000491304 SCV000298162 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 9 2016-05-01 no assertion criteria provided clinical testing
GeneDx RCV000040925 SCV000728947 likely benign not specified 2018-01-03 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.
Genetic Services Laboratory, University of Chicago RCV000040925 SCV000597712 uncertain significance not specified 2017-02-07 criteria provided, single submitter clinical testing
Invitae RCV000465722 SCV000542621 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040925 SCV000064616 uncertain significance not specified 2014-09-16 criteria provided, single submitter clinical testing The p.Lys31725Glu variant in TTN has been identified by our laboratory in 1 adul t with DCM and 1 child with complex cardiomyopathy, both of whom carry an additi onal likely pathogenic variant, as well as 1 adolescent with DCM. This variant h as also been identified in 20/66678 European chromosomes by the Exome Aggregatio n Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs72629783). Computati onal prediction tools and conservation analysis do not provide strong support fo r or against an impact to the protein. In summary, the clinical significance of the p.Lys31725Glu variant is uncertain.

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