ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.4686del (p.Phe1562fs) (rs1554023967)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559923 SCV000657497 pathogenic Cornelia de Lange syndrome 1 2016-06-24 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 23 of the NIPBL mRNA (c.4686delT), causing a frameshift at codon 1562. This creates a premature translational stop signal (p.Phe1562Leufs*27) 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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