ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.169del (p.Arg57fs) (rs1554011046)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535205 SCV000657484 pathogenic Cornelia de Lange syndrome 1 2016-10-13 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 3 of the NIPBL mRNA (c.169delA), causing a frameshift at codon 57. This creates a premature translational stop signal (p.Arg57Glyfs*21) 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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