ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.4935G>A (p.Val1645=)

dbSNP: rs886038897
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000241785 SCV000318883 likely benign Cardiovascular phenotype 2013-08-01 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.
Blueprint Genetics RCV000788803 SCV000928056 likely pathogenic not provided 2018-11-16 criteria provided, single submitter clinical testing
Invitae RCV001410010 SCV001612051 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2018-12-17 criteria provided, single submitter clinical testing
Centre of Medical Genetics, University of Antwerp RCV002245987 SCV002025336 uncertain significance Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PP3, PP4

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