ClinVar Miner

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

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756779 SCV000884689 benign not provided 2018-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617150 SCV000317806 likely benign Cardiovascular phenotype 2017-11-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Center for Human Genetics, Inc RCV000251845 SCV000782368 likely benign Thoracic aortic aneurysm and aortic dissection 2016-11-01 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000680612 SCV000808042 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
Color RCV000251845 SCV000911064 likely benign Thoracic aortic aneurysm and aortic dissection 2018-03-16 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000030541 SCV000257744 uncertain significance Loeys-Dietz syndrome 2015-06-17 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
GeneDx RCV000152008 SCV000168941 benign not specified 2012-12-14 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.
Illumina Clinical Services Laboratory,Illumina RCV000251845 SCV000442877 likely benign 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
Integrated Genetics/Laboratory Corporation of America RCV000030541 SCV000053212 benign Loeys-Dietz syndrome 2015-02-23 no assertion criteria provided clinical testing
Invitae RCV000251845 SCV000559151 likely benign Thoracic aortic aneurysm and aortic dissection 2017-12-04 criteria provided, single submitter clinical testing
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.
PreventionGenetics RCV000152008 SCV000309515 likely benign not specified criteria provided, single submitter clinical testing

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