ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.81C>T (p.His27=)

gnomAD frequency: 0.00003  dbSNP: rs1057520957
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418161 SCV000520167 likely benign not specified 2015-10-14 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000418161 SCV001748706 likely benign not specified 2021-06-27 criteria provided, single submitter clinical testing
Invitae RCV002062387 SCV002323030 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-04-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996061 SCV004830915 uncertain significance Loeys-Dietz syndrome 2 2023-06-26 criteria provided, single submitter clinical testing This variant is located in the TGFBR2 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TGFBR2-related disorders in the literature. This variant has been identified in 3/250510 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV004022335 SCV005016398 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 rs1057520957 with diabetic retinopathy.

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