ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5225-13T>G

gnomAD frequency: 0.00009  dbSNP: rs367786211
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703558 SCV000516669 likely benign not provided 2020-09-02 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30739908)
Color Diagnostics, LLC DBA Color Health RCV001191117 SCV001358813 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061627 SCV002454908 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-12-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001703558 SCV002506070 likely benign not provided 2022-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002265759 SCV002547851 uncertain significance not specified 2022-05-17 criteria provided, single submitter clinical testing Variant summary: FBN1 c.5225-13T>G alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Several computational tools predict a significant impact on normal splicing: Two predict the variant weakens a 3' acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 3.6e-05 in 249896 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.5225-13T>G has been reported in the literature in an individual affected with thoracic aortic aneurysms and dissections without strong evidence for causality (Arnaud_2019). This report does not provide unequivocal conclusions about association of the variant with Marfan Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS - possibly benign.
All of Us Research Program, National Institutes of Health RCV003996026 SCV004824071 likely benign Marfan syndrome 2023-12-18 criteria provided, single submitter clinical testing

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