ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter) (rs80358367)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000086366 SCV000193809 pathogenic Cornelia de Lange syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724758 SCV000229252 pathogenic not provided 2015-04-15 criteria provided, single submitter clinical testing
Invitae RCV000086366 SCV000775588 pathogenic Cornelia de Lange syndrome 1 2017-12-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg45*) in the NIPBL gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with Cornelia de Lange syndrome  (PMID: 20824775). ClinVar contains an entry for this variant (Variation ID: 99920). Loss-of-function variants in NIPBL are known to be pathogenic (PMID: 24038889). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000724758 SCV000890255 pathogenic not provided 2018-12-19 criteria provided, single submitter clinical testing The R45X nonsense variant in the NIPBL gene has been reported previously in association with Cornelia de Lange syndrome (Oliveira et al., 2010; Landrum et al., 2016). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R45X variant is not observed in large population cohorts (Lek et al., 2016). Therefore, R45X is considered a pathogenic variant.

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