ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln)

gnomAD frequency: 0.00274  dbSNP: rs148525155
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Total submissions: 16
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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 RCV000118803 SCV000054867 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Genetic Services Laboratory, University of Chicago RCV000118803 SCV000153430 uncertain significance not provided 2013-12-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154869 SCV000204551 benign not specified 2015-08-13 criteria provided, single submitter clinical testing p.Glu31815Gln in exon 307 of TTN: This variant is not expected to have clinical significance because it has been identified in 2.5% (166/6612) of Finnish chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs148525155).
Eurofins Ntd Llc (ga) RCV000154869 SCV000229382 benign not specified 2015-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000154869 SCV000237909 benign not specified 2017-04-20 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 RCV001086370 SCV000555369 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000118803 SCV000844604 benign not provided 2017-10-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769847 SCV000901273 benign Cardiomyopathy 2017-02-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000154869 SCV001372421 likely benign not specified 2020-06-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390268 SCV002675227 benign Cardiovascular phenotype 2018-10-31 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.
CeGaT Center for Human Genetics Tuebingen RCV000118803 SCV003916172 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing TTN: BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000154869 SCV001739526 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000154869 SCV001921312 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000154869 SCV001957900 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000118803 SCV001970038 likely benign not provided no assertion criteria provided clinical testing
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino RCV002225083 SCV002503606 likely pathogenic Tip-toe gait no assertion criteria provided clinical testing

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