ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5546-4A>C

gnomAD frequency: 0.00001  dbSNP: rs919423974
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769635 SCV000901035 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-07-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001504531 SCV001709413 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2022-05-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144582 SCV003833995 uncertain significance not provided 2021-08-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999929 SCV004820600 uncertain significance Marfan syndrome 2023-12-01 criteria provided, single submitter clinical testing This variant causes an A to C nucleotide substitution at the -4 position of intron 45 of the FBN1 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with FBN1-related disorders in the literature. This variant has been identified in 1/250390 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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