ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2772C>T (p.Gly924=)

gnomAD frequency: 0.00007  dbSNP: rs539699143
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587418 SCV000695492 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001525792 SCV001735980 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-01-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001860118 SCV002228352 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-10-26 criteria provided, single submitter clinical testing
GeneDx RCV002245025 SCV002512957 likely benign not provided 2022-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV001525792 SCV002746239 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-07-23 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 RCV004002402 SCV004814873 likely benign Marfan syndrome 2023-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543301 SCV004777171 likely benign FBN1-related disorder 2019-08-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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