ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.1256A>G (p.Asp419Gly)

gnomAD frequency: 0.00031  dbSNP: rs140464202
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521807 SCV000619581 likely benign not provided 2019-03-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314912 SCV000738975 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-08-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV002060274 SCV002493861 likely benign Congenital contractural arachnodactyly 2024-01-31 criteria provided, single submitter clinical testing

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