ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1131T>C (p.Cys377=)

gnomAD frequency: 0.00001  dbSNP: rs769211348
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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 RCV001192177 SCV001360174 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-09-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001438912 SCV001641793 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000995346 SCV001827844 likely benign not provided 2019-08-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004431 SCV004823079 likely benign Marfan syndrome 2023-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001192177 SCV005585768 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-07-04 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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