Submissions for variant NM_001999.4(FBN2):c.6138G>T (p.Gly2046=)

gnomAD frequency: 0.00005  dbSNP: rs150627604

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000437003	SCV000520232	likely benign	not specified	2016-11-21	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.
Ambry Genetics	RCV002313061	SCV000738984	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-09-16	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	RCV001512334	SCV001719728	benign	Congenital contractural arachnodactyly	2022-08-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003942354	SCV004758896	likely benign	FBN2-related disorder	2022-05-27	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).