ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.11741C>G (p.Thr3914Arg)

gnomAD frequency: 0.00333  dbSNP: rs116593093
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Total submissions: 9
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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 RCV000041007 SCV000051496 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041007 SCV000064698 benign not specified 2015-03-20 criteria provided, single submitter clinical testing Thr3914Arg in exon 45A of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 1.1% (106/10028) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs116593093).
GeneDx RCV000041007 SCV000169551 benign not specified 2014-05-12 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.
CeGaT Center for Human Genetics Tuebingen RCV001171817 SCV001334683 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing TTN: BP4, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001171817 SCV002049869 likely benign not provided 2021-05-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003924984 SCV004740494 benign TTN-related condition 2019-05-29 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000041007 SCV001739935 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001171817 SCV001800033 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000041007 SCV001917906 benign not specified no assertion criteria provided clinical testing

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