Submissions for variant NM_000138.5(FBN1):c.5805A>C (p.Ala1935=)

gnomAD frequency: 0.00001  dbSNP: rs755825254

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001179568	SCV001344260	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-11-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002067901	SCV002493459	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2023-11-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001179568	SCV002649012	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-10-17	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	RCV004006576	SCV004814629	likely benign	Marfan syndrome	2023-03-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004538409	SCV004712606	likely benign	FBN1-related disorder	2023-07-19	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).