ClinVar Miner

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

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Total submissions: 7
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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 (; 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

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