ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly) (rs371719028)

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Total submissions: 5
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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 RCV000172655 SCV000054973 likely benign not provided 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172655 SCV000333438 uncertain significance not provided 2015-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000040419 SCV000237354 likely benign not specified 2017-12-19 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 RCV000458068 SCV000555377 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-15 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040419 SCV000064110 uncertain significance not specified 2014-06-18 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Glu17205Gly var iant in TTN has been identified by our laboratory in 1 African American individu al with DCM and possible LVNC. This variant has also been identified in 0.2% (9/ 3840) of African American chromosomes by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS/; dbSNP rs371719028). Computational prediction too ls and conservation analysis do not provide strong support for or against an imp act to the protein. In summary, while the clinical significance of the Glu17205G ly variant is uncertain, its frequency suggests that it is more likely to be ben ign.

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