ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.6712del (p.Gln2238fs) (rs1554032826)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519550 SCV000620387 pathogenic not provided 2017-09-01 criteria provided, single submitter clinical testing The c.6712delC pathogenic variant in the NIPBL gene causes a frameshift starting with codon Glutamine 2238, changes this amino acid to a Arginine residue and creates a premature Stop codon at position 27 of the new reading frame, denoted p.Gln2238ArgfsX27. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.6712delC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Although this pathogenic variant has not been previously reported to our knowledge, its presence is consistent with the diagnosis of Cornelia de Lange syndrome

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