ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.8516dup (p.Lys2840fs)

dbSNP: rs1555393514
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre of Medical Genetics, University of Antwerp RCV000664029 SCV002025478 pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PVS1, PP4
Invitae RCV003767943 SCV004570868 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2023-05-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 549466). This variant is also known as c.8512dupA (p.Lys2838fsX5). This premature translational stop signal has been observed in individual(s) with Marfan syndrome (PMID: 15241795). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys2840Glufs*4) in the FBN1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acid(s) of the FBN1 protein. This variant disrupts a region of the FBN1 protein in which other variant(s) (p.Gln2867*) have been determined to be pathogenic (PMID: 19293843). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Center for Medical Genetics Ghent, University of Ghent RCV000664029 SCV000787421 uncertain significance Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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