ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3144del (p.Ile1048fs)

dbSNP: rs1555398672
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001381676 SCV001580169 pathogenic Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection 2020-09-02 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 been observed in individual(s) with Marfan syndrome (PMID: 21542060). ClinVar contains an entry for this variant (Variation ID: 549132). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile1048Metfs*40) in the FBN1 gene. It is expected to result in an absent or disrupted protein product.
Centre of Medical Genetics, University of Antwerp RCV000663604 SCV002025565 pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PVS1, PP1, PP4
Center for Medical Genetics Ghent, University of Ghent RCV000663604 SCV000786924 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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