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

gnomAD frequency: 0.00032  dbSNP: rs377499122

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham 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.
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	Familial thoracic aortic aneurysm and aortic dissection	2024-01-20	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000541600	SCV000782371	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-11-01	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000541600	SCV000903670	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-04-13	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277126	SCV002566154	likely benign	Ehlers-Danlos syndrome	2020-06-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003934914	SCV004749519	likely benign	TGFBR2-related disorder	2019-03-06	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).
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000858806	SCV001808440	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000858806	SCV001967075	likely benign	not provided		no assertion criteria provided	clinical testing