Submissions for variant NM_000138.5(FBN1):c.7929T>C (p.Ser2643=)

gnomAD frequency: 0.00001  dbSNP: rs745524158

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000442288	SCV000530798	likely benign	not specified	2017-10-30	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.
Color Diagnostics, LLC DBA Color Health	RCV001184561	SCV001350570	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-07-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001493455	SCV001698083	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2024-01-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001184561	SCV002677346	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-08-27	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	RCV004000496	SCV004844936	likely benign	Marfan syndrome	2024-02-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004533085	SCV004725213	likely benign	FBN1-related disorder	2024-02-08	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).