Submissions for variant NM_004612.4(TGFBR1):c.1216T>C (p.Leu406=)

gnomAD frequency: 0.00016  dbSNP: rs200062984

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038237	SCV000061905	likely benign	not specified	2010-07-26	criteria provided, single submitter	clinical testing	This variant has not been previously reported in the literature nor been identif ied in our laboratory. It is not expected to have clinical significance because it does not alter an amino acid residue, is not located near a splice junction, nor predicted to alter splicing.
Ambry Genetics	RCV000249900	SCV000320004	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-08-12	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.
GeneDx	RCV001711126	SCV000514888	likely benign	not provided	2018-07-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000249900	SCV000559245	benign	Familial thoracic aortic aneurysm and aortic dissection	2025-01-30	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000249900	SCV000914077	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-09-28	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315558	SCV004015615	benign	Multiple self-healing squamous epithelioma	2023-07-07	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000038237	SCV004039339	benign	not specified	2023-08-24	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000249900	SCV004239739	benign	Familial thoracic aortic aneurysm and aortic dissection	2022-11-16	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003996393	SCV004840424	benign	Loeys-Dietz syndrome	2024-01-11	criteria provided, single submitter	clinical testing