ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.942A>G (p.Lys314=)

gnomAD frequency: 0.00009  dbSNP: rs376965275
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001087363 SCV000557043 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000456232 SCV000714807 likely benign not provided 2021-05-27 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659505 SCV000781324 likely benign Marfan syndrome 2016-11-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001190174 SCV001357605 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000602535 SCV001737669 likely benign not specified 2021-06-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV001190174 SCV002683154 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-03-23 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 RCV000659505 SCV004823099 likely benign Marfan syndrome 2024-02-05 criteria provided, single submitter clinical testing

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