ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.64+1G>A (rs587784009)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146685 SCV000193998 pathogenic Cornelia de Lange syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000146685 SCV000657502 pathogenic Cornelia de Lange syndrome 1 2016-12-27 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 of the NIPBL gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in NIPBL are known to be pathogenic. This particular variant has been reported to segregate with Cornelia de Lange syndrome in a single family with four affected siblings (PMID: 22581668). It has also been reported in two individuals affected with Cornelia de Lange syndrome, and in at least one of these individuals the variant arose de novo (PMID: 15591270, 25574841). ClinVar contains an entry for this variant (Variation ID: 159191). For these reasons, this variant has been classified as Pathogenic.
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000146685 SCV000195837 pathogenic Cornelia de Lange syndrome 1 2014-12-02 no assertion criteria provided research

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