ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) (rs200144345)

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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 RCV000242642 SCV000320154 uncertain significance Cardiovascular phenotype 2015-08-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient evidence
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172645 SCV000054944 likely benign not provided 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768939 SCV000900312 benign Cardiomyopathy 2017-10-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000222300 SCV000700987 likely benign not specified 2017-11-07 criteria provided, single submitter clinical testing
GeneDx RCV000222300 SCV000237492 likely benign not specified 2017-12-21 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 RCV000475296 SCV000542562 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-12-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222300 SCV000272742 uncertain significance not specified 2015-05-06 criteria provided, single submitter clinical testing The p.Arg21111Lys variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 42/65778 European chromosomes b y the Exome Aggregation Consortium (ExAC,; dbSNP rs200144345). Computational prediction tools and conservation analysis suggest t hat this variant may impact the protein, though this information is not predicti ve enough to determine pathogenicity. In summary, the clinical significance of t he p.Arg21111Lys variant is uncertain.

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