ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.1660C>T (p.Gln554Ter)

dbSNP: rs1580394197
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008701 SCV001168480 pathogenic not provided 2019-03-13 criteria provided, single submitter clinical testing he Q554X nonsense variant in the NIPBL gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q554X variant is not observed in large population cohorts (Lek et al., 2016). Although this pathogenic variant has not been reported previously to our knowledge, it is classified as pathogenic.
Center for Molecular Medicine, Children’s Hospital of Fudan University RCV001030046 SCV001190568 likely pathogenic Cornelia de Lange syndrome 1 2019-05-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001030046 SCV002055961 pathogenic Cornelia de Lange syndrome 1 2021-07-15 criteria provided, single submitter clinical testing

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