ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1116C>T (p.Val372=)

gnomAD frequency: 0.00004  dbSNP: rs774193938
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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 RCV000774352 SCV000908054 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-17 criteria provided, single submitter clinical testing
Invitae RCV000908395 SCV001053152 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774352 SCV003911061 likely benign Familial thoracic aortic aneurysm and aortic dissection 2022-12-25 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 RCV004001389 SCV004823082 likely benign Marfan syndrome 2024-02-05 criteria provided, single submitter clinical testing

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