ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5838A>G (p.Gln1946=)

dbSNP: rs759049300
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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 RCV001525536 SCV001735677 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-06-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV001525536 SCV004002664 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-05-04 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003771602 SCV004569733 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-10-13 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008852 SCV004814627 likely benign Marfan syndrome 2023-06-26 criteria provided, single submitter clinical testing

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