ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6129G>C (p.Gly2043=)

gnomAD frequency: 0.00002  dbSNP: rs766473100
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001183747 SCV000318103 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-02-26 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.
Color Diagnostics, LLC DBA Color Health RCV001183747 SCV001349563 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001438025 SCV001640892 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-05-18 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999010 SCV004822458 likely benign Marfan syndrome 2023-11-20 criteria provided, single submitter clinical testing

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