Submissions for variant NM_000138.5(FBN1):c.6342A>C (p.Gly2114=)

gnomAD frequency: 0.00017  dbSNP: rs374705586

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000466	SCV001157321	likely benign	not specified	2018-08-15	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001177369	SCV001341567	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-06-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000466674	SCV001772691	likely benign	not provided	2020-05-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001856809	SCV002281118	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2023-07-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001177369	SCV002657944	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-07-19	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	RCV004002116	SCV004822449	likely benign	Marfan syndrome	2023-12-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004539996	SCV004783355	likely benign	FBN1-related disorder	2023-12-04	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).