ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6645del (p.Leu2216fs)

dbSNP: rs1555394928
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545982 SCV000627969 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2017-05-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). This variant has not been reported in the literature in individuals with a FBN1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu2216Serfs*7) in the FBN1 gene. It is expected to result in an absent or disrupted protein product.
Centre of Medical Genetics, University of Antwerp RCV000663886 SCV002025405 pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PVS1, PP4
Center for Medical Genetics Ghent, University of Ghent RCV000663886 SCV000787251 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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