ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr) (rs373099440)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000714119 SCV000844794 uncertain significance not provided 2017-09-21 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000714119 SCV000336438 uncertain significance not provided 2016-09-23 criteria provided, single submitter clinical testing
GeneDx RCV000714119 SCV000970612 likely benign not provided 2018-04-30 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 RCV000642835 SCV000764522 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155586 SCV000205294 uncertain significance not specified 2013-03-26 criteria provided, single submitter clinical testing The Arg28197Thr variant in TTN has not been reported in the literature nor previ ously identified by our laboratory. This variant has been identified in 3/3878 A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS). Computational analyses (biochemica l amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not pr ovide strong support for or against an impact to the protein. Additional informa tion is needed to fully assess the clinical significance of this variant.

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