Submissions for variant NM_004612.4(TGFBR1):c.528G>A (p.Thr176=)

gnomAD frequency: 0.00026  dbSNP: rs190878719

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038239	SCV000061907	likely benign	not specified	2009-06-03	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000585380	SCV000229052	uncertain significance	not provided	2015-05-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000038239	SCV000250854	benign	not specified	2015-02-10	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.
Ambry Genetics	RCV000243163	SCV000319255	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-10-20	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	RCV000303277	SCV000475624	likely benign	Loeys-Dietz syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000243163	SCV000475625	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000267898	SCV000475626	likely benign	Loeys-Dietz syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000038239	SCV000605371	benign	not specified	2016-12-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000243163	SCV000658851	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2024-01-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000585380	SCV000693294	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	TGFBR1: BP4, BP7
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000243163	SCV000901792	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-03-27	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000243163	SCV001346135	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-10-21	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000303277	SCV004840385	likely benign	Loeys-Dietz syndrome	2024-02-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000585380	SCV001808594	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000585380	SCV001929804	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000585380	SCV001975378	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003934922	SCV004750079	likely benign	TGFBR1-related disorder	2019-06-24	no assertion criteria provided	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).