ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.5369G>A (p.Arg1790Gln) (rs1555396428)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics, RCV000788925 SCV000928219 pathogenic not provided 2019-02-12 criteria provided, single submitter clinical testing
Center for Medical Genetics Ghent,University of Ghent RCV000663777 SCV000787128 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing
Color RCV000773641 SCV000907335 uncertain significance Thoracic aortic aneurysm and aortic dissection 2018-08-28 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the calcium-binding EGF-like motif 29 domain of the FBN1 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact the RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant is rare in the general population and has been identified in 0/277264 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.

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