ClinVar Miner

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

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Total submissions: 13
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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 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 ://evs.gs.washington.edu/EVS/).
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

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