ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) (rs35719192)

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Total submissions: 23
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000756779 SCV000168941 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17344846, 16928994, 9395234, 23884466, 27153395, 18781618)
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152008 SCV000200573 likely benign not specified 2011-06-15 criteria provided, single submitter clinical testing This variant has previously been reported in the literature in an individual wit h clinical features of Loeys-Dietz syndrome; however, the variant was also found in 1/200 control chromosomes (Loeys 2006) and in the reportedly unaffected pare nt of a proband in our laboratory. In addition, this residue is not highly conse rved through different species, which raises the possibility that amino acid cha nges at this position may be tolerated. Therefore, this variant is likely to be benign.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000030541 SCV000257744 uncertain significance Loeys-Dietz syndrome 2015-06-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000152008 SCV000309515 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000617150 SCV000317806 likely benign Cardiovascular phenotype 2019-01-23 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Illumina Clinical Services Laboratory,Illumina RCV000251845 SCV000442877 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327596 SCV000442878 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000030541 SCV000442879 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000251845 SCV000559151 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-11-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000152008 SCV000705827 likely benign not specified 2017-02-06 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000251845 SCV000782368 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-11-01 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000680612 SCV000808042 likely benign Connective tissue disease 2018-06-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000152008 SCV000884689 benign not specified 2019-04-25 criteria provided, single submitter clinical testing
Color Health, Inc RCV000251845 SCV000911064 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-16 criteria provided, single submitter clinical testing
Mendelics RCV000327596 SCV001136355 likely benign Marfan syndrome 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000756779 SCV001153824 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000251845 SCV001333524 benign Familial thoracic aortic aneurysm and aortic dissection 2019-03-25 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000152008 SCV001433239 benign not specified 2019-01-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030541 SCV000053212 benign Loeys-Dietz syndrome 2015-02-23 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000152008 SCV001548960 benign not specified no assertion criteria provided clinical testing LB/B > 4 on ClinVar or LB/B > 2 Rep
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000756779 SCV001798991 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000756779 SCV001808374 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000756779 SCV001932938 likely benign not provided no assertion criteria provided clinical testing

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