ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.756C>T (p.Ala252=)

gnomAD frequency: 0.00001  dbSNP: rs1398534692
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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 RCV001177650 SCV001341899 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-01-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003769910 SCV004586241 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2024-12-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006396 SCV004823112 likely benign Marfan syndrome 2023-09-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV001177650 SCV005585805 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-10-08 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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