ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1473G>A (p.Val491=)

gnomAD frequency: 0.00003  dbSNP: rs752287982
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000864534 SCV001005344 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-08-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000864534 SCV001341386 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-06-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279569 SCV002566153 uncertain significance Ehlers-Danlos syndrome 2021-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000864534 SCV002698047 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-05-17 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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