ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.1525-7G>A (rs377499122)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000541600 SCV000782371 likely benign Thoracic aortic aneurysm and aortic dissection 2016-11-01 criteria provided, single submitter clinical testing
Color RCV000541600 SCV000903670 likely benign Thoracic aortic aneurysm and aortic dissection 2018-04-13 criteria provided, single submitter clinical testing
GeneDx RCV000037734 SCV000168944 benign not specified 2013-02-01 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.
Invitae RCV000541600 SCV000658824 likely benign Thoracic aortic aneurysm and aortic dissection 2017-12-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000037734 SCV000061396 uncertain significance not specified 2012-04-13 criteria provided, single submitter clinical testing The 1525-7G>A variant in TGFBR2 has not been previously reported in the literatu re or identified by our laboratory. This variant is located in the 3' splice re gion and computational tools do not predict altered splicing. However, this inf ormation is not predictive enough to rule out pathogenicity. It has also been i dentified in 3/7020 European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). Although t his data supports that the 1525-7G>A variant may be benign, additional studies a re needed to fully assess its clinical significance.

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