Submissions for variant NM_000138.5(FBN1):c.3429C>A (p.Gly1143=)

gnomAD frequency: 0.00008  dbSNP: rs151232024

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000590451	SCV000695511	likely benign	not specified	2019-08-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001474553	SCV001678724	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2018-01-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002456282	SCV002615556	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-04-11	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	RCV004002403	SCV004824751	likely benign	Marfan syndrome	2023-07-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530639	SCV004710627	likely benign	FBN1-related disorder	2023-03-29	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).