Submissions for variant NM_000138.5(FBN1):c.6054C>T (p.Val2018=)

gnomAD frequency: 0.00013  dbSNP: rs542953863

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000443368	SCV000530795	likely benign	not specified	2016-08-08	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000528819	SCV000627954	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2025-01-06	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769632	SCV000901032	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-10-03	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000769632	SCV001349217	benign	Familial thoracic aortic aneurysm and aortic dissection	2019-03-08	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279201	SCV002566540	uncertain significance	Connective tissue disorder	2020-01-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000769632	SCV002657815	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-10-31	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.
CeGaT Center for Human Genetics Tuebingen	RCV002510891	SCV002822181	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	FBN1: BP4, BP7, BS1
All of Us Research Program, National Institutes of Health	RCV004000495	SCV004814607	benign	Marfan syndrome	2024-09-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004539874	SCV004762574	likely benign	FBN1-related disorder	2019-10-28	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).