ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.86del (p.Pro29fs) (rs587784060)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146746 SCV000194065 pathogenic Cornelia de Lange syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV000146746 SCV000657506 pathogenic Cornelia de Lange syndrome 1 2016-10-25 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 3 of the NIPBL mRNA (c.86delC), causing a frameshift at codon 29. This creates a premature translational stop signal (p.Pro29Hisfs*18) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in NIPBL are known to be pathogenic (PMID: 24038889). For these reasons, this variant has been classified as Pathogenic.

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