Submissions for variant NM_000138.5(FBN1):c.7266A>G (p.Arg2422=)

gnomAD frequency: 0.00009  dbSNP: rs532737688

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000555109	SCV000627983	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2024-01-31	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490965	SCV002798808	likely benign	Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome	2021-07-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003159744	SCV003911069	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-01-22	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	RCV004003794	SCV004818058	likely benign	Marfan syndrome	2023-04-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537906	SCV004715916	likely benign	FBN1-related disorder	2021-06-08	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).