ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser) (rs376857956)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040321 SCV000064012 uncertain significance not specified 2014-07-03 criteria provided, single submitter clinical testing The Arg1453Ser variant in TTN has been identified by our laboratory in 1 Asian i ndividual with HCM and in 1/4406 African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs376857956). Comp utational prediction tools and conservation analysis do not provide strong suppo rt for or against an impact to the protein. In summary, the clinical significanc e of the Arg1453Ser variant is uncertain.
GeneDx RCV000040321 SCV000237996 likely benign not specified 2018-03-01 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.
Ambry Genetics RCV000242790 SCV000320509 likely benign Cardiovascular phenotype 2017-05-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000040321 SCV000605501 uncertain significance not specified 2017-03-11 criteria provided, single submitter clinical testing
Invitae RCV000544938 SCV000643172 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852938 SCV000995684 likely benign Atrial fibrillation 2018-05-26 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000544938 SCV001153187 uncertain significance not provided 2018-08-01 criteria provided, single submitter 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.