ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.4061G>A (p.Trp1354Ter) (rs1060501039)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463734 SCV000544856 pathogenic Marfan syndrome 2016-07-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1354 (p.Trp1354*) of the FBN1 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in FBN1 are known to be pathogenic (PMID: 17657824, 19293843). This variant has been reported in individuals in the Universal Mutation Database (PMID: 12938084 ). For these reasons, this variant has been classified as Pathogenic.
Center for Medical Genetics Ghent,University of Ghent RCV000463734 SCV000787020 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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