ClinVar Miner

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

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172604 SCV000051278 likely benign not provided 2013-06-24 criteria provided, single submitter research
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,; 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000172604 SCV000338012 uncertain significance not provided 2015-12-18 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
Genetic Services Laboratory, University of Chicago RCV000040925 SCV000597712 uncertain significance not specified 2017-02-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000172604 SCV000615964 uncertain significance not provided 2018-10-22 criteria provided, single submitter 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769849 SCV000901275 uncertain significance Cardiomyopathy 2016-05-02 criteria provided, single submitter clinical testing
Genetics and Genomics Program,Sidra Medicine RCV001293056 SCV001434038 likely benign Hypertrophic cardiomyopathy criteria provided, single submitter research
Baylor Genetics RCV001333490 SCV001526082 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2018-03-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia RCV000491304 SCV000298162 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2016-05-01 no assertion criteria provided clinical testing

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