ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5596A>G (p.Ile1866Val)

gnomAD frequency: 0.00001  dbSNP: rs367586350
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001189048 SCV001356242 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-11-27 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with valine at codon 1866 of the FBN1 protein. Computational prediction tool indicates that this variant may have a neutral impact on protein structure and function. 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 11/282314 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002069059 SCV002357746 likely benign Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-12-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010328 SCV004814645 uncertain significance Marfan syndrome 2023-12-18 criteria provided, single submitter clinical testing This missense variant replaces isoleucine with valine at codon 1866 of the FBN1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 11/282314 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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