ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2079G>A (p.Gly693=)

gnomAD frequency: 0.00008  dbSNP: rs374174497
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001412527 SCV001614613 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003528297 SCV004357454 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-04-20 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006927 SCV004814924 likely benign Marfan syndrome 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003528297 SCV005032426 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-09-18 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.

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