ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) (rs370890454)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247024 SCV000318967 uncertain significance Cardiovascular phenotype 2013-10-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000219897 SCV000616129 uncertain significance not specified 2017-07-21 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172270 SCV000054949 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769962 SCV000901388 uncertain significance Cardiomyopathy 2016-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000172270 SCV000982836 likely benign not provided 2018-06-05 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 RCV000470047 SCV000542464 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-10 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000219897 SCV000272739 uncertain significance not specified 2015-06-30 criteria provided, single submitter clinical testing The p.Arg20545Gln variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 6/66666 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s370890454). Computational prediction tools and conservation analysis suggest th at the p.Arg20545Gln variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical signi ficance of the p.Arg20545Gln variant is uncertain.

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