Submissions for variant NM_000138.5(FBN1):c.2502T>A (p.Ser834=)

gnomAD frequency: 0.00002  dbSNP: rs754372754

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001176842	SCV001340904	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-12-13	criteria provided, single submitter	clinical testing
GeneDx	RCV001751308	SCV001997020	uncertain significance	not provided	2019-12-18	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing; in the absence of RNA/functional studies, the actual effect of this sequence change is unknown
Labcorp Genetics (formerly Invitae), Labcorp	RCV001875826	SCV002132339	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2022-12-07	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004006331	SCV004814899	likely benign	Marfan syndrome	2023-10-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001176842	SCV005032580	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-09-18	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.