ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.5787G>A (p.Gln1929=)

gnomAD frequency: 0.00002  dbSNP: rs746307443
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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 RCV002311183 SCV000320396 likely benign Familial thoracic aortic aneurysm and aortic dissection 2015-10-04 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 RCV001459435 SCV001663274 likely benign Congenital contractural arachnodactyly 2022-07-19 criteria provided, single submitter clinical testing
GeneDx RCV001540712 SCV001758622 likely benign not provided 2019-04-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV003930029 SCV004743286 likely benign FBN2-related condition 2019-04-10 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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