Submissions for variant NM_000090.4(COL3A1):c.1473A>C (p.Arg491=)

gnomAD frequency: 0.00002  dbSNP: rs759650260

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001179354	SCV001344002	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-10-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001401008	SCV001602819	likely benign	Ehlers-Danlos syndrome, type 4	2024-11-12	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001179354	SCV002701071	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2020-03-17	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.
All of Us Research Program, National Institutes of Health	RCV001401008	SCV004832435	likely benign	Ehlers-Danlos syndrome, type 4	2023-08-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004782589	SCV005394419	likely benign	not specified	2024-09-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541740	SCV004795072	likely benign	COL3A1-related disorder	2019-03-27	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).