ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) (rs201080904)

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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 RCV000247259 SCV000320152 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 (benign)
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172612 SCV000054877 likely benign not provided 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769867 SCV000901293 benign Cardiomyopathy 2017-10-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000220575 SCV000700988 likely benign not specified 2017-11-07 criteria provided, single submitter clinical testing
GeneDx RCV000220575 SCV000237837 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 RCV000469734 SCV000542421 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 RCV000220575 SCV000272816 uncertain significance not specified 2015-05-06 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Arg29945His v ariant in TTN has not been previously reported in individuals with cardiomyopath y, but has been identified in 40/58240 European chromosomes by the Exome Aggrega tion Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201080904). Compu tational prediction tools and conservation analysis do not provide strong suppor t for or against an impact to the protein, though multiple fish species carry a histidine (His) at this position, suggesting that this change may be tolerated. In summary, while the clinical significance of the p.Arg29945His variant is unce rtain, these data suggest that it is more likely to be benign.

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