ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.654C>G (p.Gly218=)

gnomAD frequency: 0.00001  dbSNP: rs375181377
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170327 SCV001332898 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001170327 SCV001344597 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001433600 SCV001636391 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-08-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004803437 SCV005424946 likely benign Marfan syndrome 2024-05-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV001170327 SCV005585839 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-11-02 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.

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