ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.862+3A>G

gnomAD frequency: 0.00001  dbSNP: rs1555401453
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002493078 SCV002776740 uncertain significance Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 2021-07-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000664034 SCV004836208 uncertain significance Marfan syndrome 2023-12-13 criteria provided, single submitter clinical testing This variant causes an A to G nucleotide substitution at the +3 position of intron 8 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 not been identified 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.
Center for Medical Genetics Ghent, University of Ghent RCV000664034 SCV000787426 uncertain significance Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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