ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.3248del (p.Pro1083fs) (rs1554019698)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555256 SCV000657491 pathogenic Cornelia de Lange syndrome 1 2017-01-22 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 11 of the NIPBL mRNA (c.3248delC), causing a frameshift at codon 1083. This creates a premature translational stop signal (p.Pro1083Glnfs*90) 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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