Submissions for variant NM_000138.5(FBN1):c.4986A>G (p.Thr1662=)

gnomAD frequency: 0.00006  dbSNP: rs753705796

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000772515	SCV000738801	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-05-24	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.
Color Diagnostics, LLC DBA Color Health	RCV000772515	SCV000905694	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-04-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001427755	SCV001630440	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2023-06-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003333998	SCV004041931	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	FBN1: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV004002717	SCV004814683	likely benign	Marfan syndrome	2023-10-23	criteria provided, single submitter	clinical testing