ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2055C>T (p.Cys685=)

gnomAD frequency: 0.00304  dbSNP: rs140603
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029704 SCV000052357 benign Marfan syndrome 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
GeneDx RCV000181397 SCV000233699 benign not specified 2014-08-08 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000430970 SCV000510659 benign not provided 2016-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001082103 SCV000557041 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2025-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000769651 SCV000738757 benign Familial thoracic aortic aneurysm and aortic dissection 2016-01-12 criteria provided, single submitter clinical testing This alteration is classified as 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000181397 SCV000885414 benign not specified 2018-07-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769651 SCV000901053 benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000769651 SCV000913695 benign Familial thoracic aortic aneurysm and aortic dissection 2018-05-11 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000029704 SCV004814927 benign Marfan syndrome 2024-02-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000430970 SCV005295679 benign not provided criteria provided, single submitter not provided

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