ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) (rs368327166)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 13
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000040159 SCV000055026 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000040159 SCV000063850 benign not specified 2012-11-27 criteria provided, single submitter clinical testing Glu9928dup in exon 137 of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 1.6% (131/7868) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://
GeneDx RCV000040159 SCV000236634 benign not specified 2014-08-28 criteria provided, single submitter clinical testing The variant is found in DCM,CARDIOMYOPATHY panel(s).
Genetic Services Laboratory, University of Chicago RCV000040159 SCV000249252 uncertain significance not specified 2014-09-02 criteria provided, single submitter clinical testing
Invitae RCV000205941 SCV000262484 benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000040159 SCV000315473 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000243187 SCV000318394 benign Cardiovascular phenotype 2013-02-28 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000040159 SCV000332839 benign not specified 2015-07-06 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770056 SCV000901482 likely benign Cardiomyopathy 2016-06-13 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852873 SCV000995607 likely benign Primary dilated cardiomyopathy; Brugada syndrome 2018-12-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000993425 SCV001146375 benign not provided 2019-05-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000040159 SCV001361566 benign not specified 2019-08-26 criteria provided, single submitter clinical testing Variant summary: TTN c.29781_29783dupAGA (p.Glu9928dup) results in an in-frame duplication in exon 137 of the encoded protein. The variant allele was found at a frequency of 0.011 in 248470 control chromosomes in the gnomAD database, including 22 homozygotes. The observed variant frequency is approximately 18.0 fold of the estimated maximal expected allele frequency for a pathogenic variant in TTN causing Cardiomyopathy phenotype (0.00063), strongly suggesting that the variant is benign. To our knowledge, no conclusive occurrence of c.29781_29783dupAGA in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Co-occurrences with other pathogenic/likely pathogenic variant(s) have been reported in the literature as well as at our laboratory (example DSP c.939+1G>A (Pugh_2014); TTN c.34782_34785delTTGT, p.Cys11595fs*9, our laboratory), providing supporting evidence for a benign role. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.
Blueprint Genetics RCV000143967 SCV000188848 uncertain significance Paroxysmal familial ventricular fibrillation 1 2013-10-17 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.