ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.855A>G (p.Lys285=)

gnomAD frequency: 0.00001  dbSNP: rs1272913373
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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 RCV001184341 SCV001350301 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001467030 SCV001671045 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV001184341 SCV003855938 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-12-04 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.
All of Us Research Program, National Institutes of Health RCV004008454 SCV004823101 likely benign Marfan syndrome 2023-09-04 criteria provided, single submitter clinical testing

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