ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.276C>T (p.Asp92=)

gnomAD frequency: 0.00003  dbSNP: rs774840447
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001465739 SCV001669731 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-06-05 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001465739 SCV001735126 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-02-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV001465739 SCV002747192 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-04-15 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV003908348 SCV004719675 likely benign TGFBR2-related condition 2023-02-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV004003125 SCV004839156 likely benign Loeys-Dietz syndrome 2 2023-11-30 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV004027894 SCV005016444 likely benign Diabetic retinopathy criteria provided, single submitter research Potent mutations in TGFBR2 gene encodes the transforming growth factor that have been associated with angiogenesis and diabetic retinopathy. More clinical studies are needed for stronger association. However, more evidence is required to confer the association of this particular variant rs774840447 with diabetic retinopathy.

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