Submissions for variant NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=)

gnomAD frequency: 0.00288  dbSNP: rs7861780

Total submissions: 21

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038235	SCV000061903	benign	not specified	2012-03-13	criteria provided, single submitter	clinical testing	Thr375Thr in exon 6 of TGFBR1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and it has been identified in 0.4% (29/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs7861780).
GeneDx	RCV000038235	SCV000171992	benign	not specified	2013-02-28	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.
Eurofins Ntd Llc (ga)	RCV000038235	SCV000231696	benign	not specified	2014-09-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000038235	SCV000310509	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000245145	SCV000317378	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-02-11	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.
Illumina Laboratory Services, Illumina	RCV000030538	SCV000475639	likely benign	Loeys-Dietz syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000245145	SCV000475640	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000305975	SCV000475641	likely benign	Loeys-Dietz syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000245145	SCV000559250	benign	Familial thoracic aortic aneurysm and aortic dissection	2024-02-01	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000245145	SCV000782358	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-11-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573786	SCV000884685	benign	not provided	2023-04-04	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000245145	SCV000901797	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-10-26	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000245145	SCV000902764	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-03-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573786	SCV001962189	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	TGFBR1: BP4, BP7, BS1, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277107	SCV002566130	benign	Ehlers-Danlos syndrome	2022-04-22	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315523	SCV004015614	benign	Multiple self-healing squamous epithelioma	2023-07-07	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000030538	SCV004840416	likely benign	Loeys-Dietz syndrome	2024-02-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001573786	SCV005224729	likely benign	not provided		criteria provided, single submitter	not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030538	SCV000053209	benign	Loeys-Dietz syndrome	2011-11-01	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573786	SCV001800146	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573786	SCV001974187	likely benign	not provided		no assertion criteria provided	clinical testing