Submissions for variant NM_000138.5(FBN1):c.6189G>A (p.Ala2063=)

gnomAD frequency: 0.00003  dbSNP: rs375624881

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179081	SCV000231274	uncertain significance	not provided	2015-05-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314654	SCV000738886	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-04-28	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002516787	SCV001111834	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2023-11-24	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003996576	SCV004826290	likely benign	Marfan syndrome	2024-02-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004737284	SCV005363043	likely benign	FBN1-related disorder	2024-07-15	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).