ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.32953C>T (p.Arg10985Trp) (rs201991864)

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Total submissions: 5
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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 RCV000172363 SCV000055030 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770064 SCV000901490 uncertain significance Cardiomyopathy 2017-04-06 criteria provided, single submitter clinical testing
GeneDx RCV000154961 SCV000729741 likely benign not specified 2017-12-04 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 RCV000643341 SCV000765028 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-10-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154961 SCV000204643 uncertain significance not specified 2014-07-16 criteria provided, single submitter clinical testing The Arg9741Trp variant in TTN has not been previously reported in individuals wi th cardiomyopathy, but has been identified in 1/587 of European chromosomes by t he ClinSeq project (dbSNP rs201991864). Arginine (Arg) at position 9741 is not w ell conserved in evolution, decreasing the likelihood that a change would be pat hogenic. In summary, the clinical significance of the Arg9741Trp variant is unce rtain.

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