ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11311+4523A>C (rs200760091)

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Total submissions: 4
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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 RCV000172440 SCV000051217 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000222083 SCV000272851 uncertain significance not specified 2015-06-16 criteria provided, single submitter clinical testing The p.Glu4600Ala variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/8594 East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s200760091). Computational prediction tools and conservation analysis are limite d or unavailable for this variant. In summary, the clinical significance of the p.Glu4600Ala variant is uncertain.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000172440 SCV000703070 uncertain significance not provided 2016-11-06 criteria provided, single submitter clinical testing
GeneDx RCV000222083 SCV000728903 likely benign not specified 2018-03-12 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.

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