ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5340A>C (p.Gly1780=)

gnomAD frequency: 0.00001  dbSNP: rs766501385
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590775 SCV000695554 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000772500 SCV000905679 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000872485 SCV001014302 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000772500 SCV002643267 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-09-09 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 RCV004002408 SCV004814663 likely benign Marfan syndrome 2023-08-15 criteria provided, single submitter clinical testing

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