ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.7902C>T (p.Pro2634=)

gnomAD frequency: 0.00006  dbSNP: rs138621371
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000770654 SCV000318894 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-06-27 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.
Eurofins Ntd Llc (ga) RCV000725965 SCV000340893 uncertain significance not provided 2016-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000359658 SCV000513007 benign not specified 2016-02-10 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001080597 SCV000557037 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-18 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770654 SCV000902112 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-07-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000770654 SCV000913812 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725965 SCV001501060 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing FBN1: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000359658 SCV004039241 benign not specified 2023-08-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999031 SCV004844938 likely benign Marfan syndrome 2024-01-08 criteria provided, single submitter clinical testing

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