ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.762C>T (p.Pro254=)

gnomAD frequency: 0.00001  dbSNP: rs374318726
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001182481 SCV000320006 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-08-16 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587882 SCV000695604 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000680522 SCV000807924 likely benign Marfan syndrome 2018-06-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001182481 SCV001347943 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-07-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059039 SCV002440412 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2021-08-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000680522 SCV004823111 likely benign Marfan syndrome 2023-12-01 criteria provided, single submitter clinical testing

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