Submissions for variant NM_000138.5(FBN1):c.8188C>T (p.Arg2730Trp)

dbSNP: rs1371152380

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001796176	SCV002032691	uncertain significance	not provided	2021-06-08	criteria provided, single submitter	clinical testing	Reported in a female with aneurysm of the ascending aorta, cerebral infarction, and arterial stenosis (Overwater E et al., 2018); Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Does not affect a cysteine residue within a calcium-binding EGF-like domain of the FBN1 gene; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN1-related disorders (Collod-Beroud et al., 2003); This variant is associated with the following publications: (PMID: 29907982, 12938084, 27535533)
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003485626	SCV004240598	uncertain significance	Familial thoracic aortic aneurysm and aortic dissection	2023-06-02	criteria provided, single submitter	clinical testing
Center for Medical Genetics Ghent, University of Ghent	RCV000664016	SCV000787404	uncertain significance	Marfan syndrome	2017-11-07	no assertion criteria provided	clinical testing