ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.5829dup (p.Gly1944fs)

dbSNP: rs1554027083
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627564 SCV000748564 pathogenic not provided 2018-04-02 criteria provided, single submitter clinical testing The c.5829dupT pathogenic variant in the NIPBL gene causes a frameshift starting with codon Glycine 1944, changes this amino acid to a Tryptophan residue and creates a premature Stop codon at position 3 of the new reading frame, denoted p.Gly1944TrpfsX3. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.5829dupT variant is not observed in large population cohorts (Lek et al., 2016). Although this pathogenic variant has not been previously reported to our knowledge, its presence is consistent with the diagnosis of Cornelia de Lange.

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