ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.771+1G>A (rs587784048)

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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 RCV000146730 SCV000194048 pathogenic Cornelia de Lange syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725345 SCV000336190 pathogenic not provided 2015-10-05 criteria provided, single submitter clinical testing
Invitae RCV000146730 SCV000962822 pathogenic Cornelia de Lange syndrome 1 2018-12-21 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 7 of the NIPBL gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in individuals affected with Cornelia de Lange syndrome (PMID: 25574841, 28588001). ClinVar contains an entry for this variant (Variation ID: 159235). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NIPBL are known to be pathogenic (PMID: 24038889). For these reasons, this variant has been classified as Pathogenic.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000146730 SCV000195839 pathogenic Cornelia de Lange syndrome 1 2014-12-02 no assertion criteria provided research

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