Submissions for variant NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)

gnomAD frequency: 0.00034  dbSNP: rs34833812

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000247266	SCV000317327	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-09-25	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV001094839	SCV000442862	likely benign	Loeys-Dietz syndrome 2	2019-01-10	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000290470	SCV000442863	likely benign	Loeys-Dietz syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000344037	SCV000442864	likely benign	Marfan syndrome	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001310481	SCV000514893	benign	not provided	2018-06-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 17935258, 9590282, 22995991, 20144264, 15235604, 16251899, 18339844, 27647783, 31769227)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000247266	SCV000559153	benign	Familial thoracic aortic aneurysm and aortic dissection	2024-01-09	criteria provided, single submitter	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000626289	SCV000746948	benign	Familial colorectal cancer	2023-12-10	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000247266	SCV000903189	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-03-08	criteria provided, single submitter	clinical testing
Mendelics	RCV000344037	SCV001136353	benign	Marfan syndrome	2023-08-22	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000247266	SCV001333522	benign	Familial thoracic aortic aneurysm and aortic dissection	2023-02-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001310481	SCV001500294	benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	TGFBR2: BP4, BS1, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002276544	SCV002566163	benign	Ehlers-Danlos syndrome	2020-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004586001	SCV005077115	likely benign	not specified	2024-04-21	criteria provided, single submitter	clinical testing
OMIM	RCV000013325	SCV000033572	pathogenic	Colorectal cancer, hereditary nonpolyposis, type 6	1998-05-01	flagged submission	literature only
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001310481	SCV001797497	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001310481	SCV001931279	likely benign	not provided		no assertion criteria provided	clinical testing