ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4665T>C (p.Val1555=)

gnomAD frequency: 0.00002  dbSNP: rs191569116
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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 RCV000869873 SCV001011334 benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2025-01-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001176829 SCV001340889 benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV001176829 SCV002636168 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-08-03 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 RCV004003053 SCV004814704 benign Marfan syndrome 2024-01-05 criteria provided, single submitter clinical testing

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