ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.13936A>G (p.Lys4646Glu)

gnomAD frequency: 0.00562  dbSNP: rs140909116
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Total submissions: 10
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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 RCV000041033 SCV000051766 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041033 SCV000064724 benign not specified 2014-12-17 criteria provided, single submitter clinical testing p.Lys4646Glu in exon 45A of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 1.1% (182/16562) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs140909116).
GeneDx RCV000041033 SCV000236720 benign not specified 2014-09-03 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001529272 SCV001473587 benign not provided 2023-09-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001529272 SCV002496616 benign not provided 2024-03-01 criteria provided, single submitter clinical testing TTN: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003974917 SCV004786646 benign TTN-related condition 2019-05-13 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 RCV001529272 SCV001742438 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001529272 SCV001800697 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000041033 SCV001919915 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000041033 SCV001951825 benign not specified no assertion criteria provided clinical testing

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