ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11311+3847G>T (rs72647902)

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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 RCV000172716 SCV000051326 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041017 SCV000064708 likely benign not specified 2018-08-16 criteria provided, single submitter clinical testing p.Ala4375Ser in exon 45A of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 0.05% (57/125522) of European chro mosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute .org; dbSNP rs72647902). In addition, this variant is located in an exon that is only present in an alternate transcript (Novex-3), whose function is unclear. A CMG/AMP Criteria applied: BS1; BP4.
GeneDx RCV000172716 SCV000238112 likely benign not provided 2019-01-29 criteria provided, single submitter clinical testing Identified in a large cohort of individuals with dilated cardiomyopathy; however, no details are provided (Haas et al., 2015); Observed in 0.0454% (57/125522) of alleles from individuals of European (non-Finnish) background in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25163546)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000172716 SCV000855293 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000172716 SCV001153135 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000172716 SCV001744002 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000172716 SCV001918615 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000172716 SCV001929919 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000172716 SCV001953150 likely benign not provided no assertion criteria provided clinical testing

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