ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.6086_6087insT (p.Tyr2030fs) (rs1554030285)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556866 SCV000657500 pathogenic Cornelia de Lange syndrome 1 2016-11-15 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 34 of the NIPBL mRNA (c.6086_6087insT), causing a frameshift at codon 2030. This creates a premature translational stop signal (p.Tyr2030Ilefs*5) 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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