Submissions for variant NM_003242.6(TGFBR2):c.126C>T (p.Asn42=)

gnomAD frequency: 0.00004  dbSNP: rs574133875

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001176894	SCV001340992	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-06-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001176894	SCV001634548	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-05-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001176894	SCV002685906	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2021-06-12	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.
All of Us Research Program, National Institutes of Health	RCV004004125	SCV004839153	likely benign	Loeys-Dietz syndrome 2	2023-12-01	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV004025938	SCV005016422	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 rs574133875 with diabetic retinopathy.