Submissions for variant NM_005911.6(MAT2A):c.501A>G (p.Leu167=)

gnomAD frequency: 0.00220  dbSNP: rs75623534

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000557547	SCV000658894	benign	Familial thoracic aortic aneurysm and aortic dissection	2024-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001722524	SCV000714047	likely benign	not provided	2021-05-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002341481	SCV002644573	likely benign	Cardiovascular phenotype	2019-06-12	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003323616	SCV004028978	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001722524	SCV004155116	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	MAT2A: BP4, BP7