Submissions for variant NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=)

gnomAD frequency: 0.00194  dbSNP: rs113194608

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125488	SCV000168940	benign	not specified	2012-10-25	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	RCV000233588	SCV000287917	benign	Familial thoracic aortic aneurysm and aortic dissection	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000125488	SCV000309514	likely benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617145	SCV000318669	likely benign	Cardiovascular phenotype	2015-11-10	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Illumina Laboratory Services, Illumina	RCV000233588	SCV000442874	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000333236	SCV000442875	likely benign	Loeys-Dietz syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000385424	SCV000442876	likely benign	Marfan syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000125488	SCV000597486	likely benign	not specified	2016-08-26	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001725987	SCV000605377	benign	not provided	2023-08-10	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000233588	SCV000782367	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-11-01	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000233588	SCV000901786	benign	Familial thoracic aortic aneurysm and aortic dissection	2017-09-20	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000233588	SCV000910714	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-03-08	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277272	SCV002566148	benign	Ehlers-Danlos syndrome	2022-04-29	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003997432	SCV004839223	benign	Loeys-Dietz syndrome 2	2024-02-05	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000125488	SCV000272926	benign	not specified	2015-06-04	no assertion criteria provided	clinical testing	p.Leu354Leu in exon 4 of TGFBR2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 1.6% (236/14206) of South Asian chromosomes including 5 homozygotes by the Exome Aggregation Cons ortium (ExAC, http://exac.broadinstitute.org/; dbSNP rs113194608).
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000125488	SCV001807514	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001725987	SCV001963949	likely benign	not provided		no assertion criteria provided	clinical testing