Submissions for variant NM_003238.6(TGFB2):c.357G>A (p.Pro119=)

gnomAD frequency: 0.00054  dbSNP: rs138514914

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000198675	SCV000250834	benign	not specified	2015-03-02	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	RCV002310794	SCV000319482	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2015-03-16	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	RCV000354527	SCV000354239	benign	Loeys-Dietz syndrome 4	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000354527	SCV000755466	benign	Loeys-Dietz syndrome 4	2024-01-25	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000680609	SCV000808039	likely benign	Connective tissue disorder	2018-06-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000198675	SCV001821406	likely benign	not specified	2021-08-28	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277543	SCV002566118	likely benign	Ehlers-Danlos syndrome	2021-12-08	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000354527	SCV002807405	likely benign	Loeys-Dietz syndrome 4	2021-07-27	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000354527	SCV004564016	benign	Loeys-Dietz syndrome 4	2023-05-15	criteria provided, single submitter	clinical testing