ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.86117G>A (p.Arg28706Gln) (rs199788826)

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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 RCV000156709 SCV000206430 uncertain significance not specified 2014-07-23 criteria provided, single submitter clinical testing The Arg26138Gln variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. This variant has been listed in dbSNP without frequency information (dbSNP rs199788826). Computational predic tion tools and conservation analysis do not provide strong support for or agains t an impact to the protein. In summary, the clinical significance of the Arg2613 8Gln variant is uncertain.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000156709 SCV000701075 likely benign not specified 2017-05-24 criteria provided, single submitter clinical testing
GeneDx RCV000156709 SCV000714727 benign not specified 2018-03-05 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 RCV000643058 SCV000764745 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-14 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768881 SCV000900254 uncertain significance Cardiomyopathy 2016-08-29 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000156709 SCV001925570 benign not specified no assertion criteria provided clinical testing

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