ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12233C>T (p.Thr4078Ile)

gnomAD frequency: 0.00471  dbSNP: rs80136515
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Total submissions: 18
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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 RCV000041090 SCV000051441 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000041090 SCV000064781 benign not specified 2012-03-02 criteria provided, single submitter clinical testing Thr3840Ile in exon 45B of TTN: This variant is not expected to have clinical sig nificance because it has been identified in 1.3% (38/3022) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs80136515).
GeneDx RCV000041090 SCV000169574 benign not specified 2014-05-01 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000463695 SCV000555146 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000041090 SCV000615987 benign not specified 2016-08-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619735 SCV000736652 benign Cardiovascular phenotype 2016-07-19 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770115 SCV000901541 benign Cardiomyopathy 2016-03-09 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000770115 SCV000995666 benign Cardiomyopathy 2018-05-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839793 SCV002100849 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839794 SCV002100850 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839795 SCV002100851 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001839792 SCV002100853 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002227056 SCV002506033 benign not provided 2022-02-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002227056 SCV004700874 benign not provided 2023-12-01 criteria provided, single submitter clinical testing TTN: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV004541204 SCV004787944 benign TTN-related disorder 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).
Breakthrough Genomics, Breakthrough Genomics RCV002227056 SCV005241349 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000041090 SCV001923172 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000041090 SCV001964757 benign not specified no assertion criteria provided clinical testing

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