ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.7789del (p.Leu2597fs) (rs80358368)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000086392 SCV000194051 pathogenic Cornelia de Lange syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000256022 SCV000322277 pathogenic not provided 2016-03-11 criteria provided, single submitter clinical testing The c.7789delC pathogenic variant in the NIPBL gene has been reported previously (as L2597Cfs*14 due to the use of alternative nomenclature) in association with Cornelia de Lange syndrome (Ansari et al., 2014). The c.7789delC variant causes a frameshift starting with codon Leucine 2597, changes this amino acid to a Cysteine residue, and creates a premature Stop codon at position 14 of the new reading frame, denoted p.Leu2597CysfsX14. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.7789delC variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.7789delC as a pathogenic variant.

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