ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.690G>A (p.Thr230=)

gnomAD frequency: 0.00003  dbSNP: rs201560560
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000363353 SCV000442850 uncertain significance Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000266417 SCV000442851 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000323947 SCV000442852 uncertain significance Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001171831 SCV000715903 likely benign not provided 2019-06-17 criteria provided, single submitter clinical testing
Invitae RCV000266417 SCV001007059 benign Familial thoracic aortic aneurysm and aortic dissection 2023-12-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001171831 SCV001334702 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing TGFBR2: BP4, BP7
Color Diagnostics, LLC DBA Color Health RCV000266417 SCV001353190 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-07 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000266417 SCV002042884 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000266417 SCV002668185 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-03-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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