ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1272A>G (p.Gln424=)

gnomAD frequency: 0.00005  dbSNP: rs763710172
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001525847 SCV001736045 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-01-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568827 SCV003300947 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-12-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008878 SCV004823066 likely benign Marfan syndrome 2023-06-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541977 SCV004757912 likely benign FBN1-related disorder 2023-07-20 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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