ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5466C>T (p.Ala1822=)

gnomAD frequency: 0.00002  dbSNP: rs947248042
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712365 SCV000517854 likely benign not provided 2021-02-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001188685 SCV001355811 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062290 SCV002459200 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-03-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003996034 SCV004814652 likely benign Marfan syndrome 2023-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001188685 SCV006002699 likely benign Familial thoracic aortic aneurysm and aortic dissection 2025-01-04 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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