ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.3058_3059AG[1] (p.Glu1021fs) (rs587783914)

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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 RCV000146563 SCV000193860 pathogenic Cornelia de Lange syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000255232 SCV000322275 pathogenic not provided 2016-03-04 criteria provided, single submitter clinical testing The c.3060_3063delAGAG pathogenic variant in the NIPBL gene has been reported previously in individuals with Cornelia de Lange Syndrome (Gillis et al., 2004; Bhuiyan et al., 2006). The c.3060_3063delAGAG variant causes a frameshift starting with codon Glutamic acid 1021, changes this amino acid to a Threonine residue, and creates a premature Stop codon at position 22 of the new reading frame, denoted p.Glu1021ThrfsX22. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3060_3063delAGAG variant was not observed in approximately 6,500 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.3060_3063delAGAG as a pathogenic variant.

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