ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2753C>G (p.Pro918Arg)

gnomAD frequency: 0.00004  dbSNP: rs557798071
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774077 SCV000907777 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514290 SCV001722098 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-12-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002279526 SCV002566518 likely benign Connective tissue disorder 2019-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774077 SCV002749004 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-03-18 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.
All of Us Research Program, National Institutes of Health RCV004001346 SCV004814875 likely benign Marfan syndrome 2024-05-09 criteria provided, single submitter clinical testing

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