ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.7435_7436GA[2] (p.Arg2480fs) (rs587784043)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000146725 SCV000854619 pathogenic Cornelia de Lange syndrome 1 2018-11-18 no assertion criteria provided clinical testing
GeneDx RCV000599444 SCV000709926 pathogenic not provided 2018-06-25 criteria provided, single submitter clinical testing The c.7439_7440delGA pathogenic variant in the NIPBL gene has been reported previously in association with Cornelia de Lange syndrome (Yan et al., 2006; Pie et al., 2010). The deletion causes a frameshift starting with codon Arginine 2480, changes this amino acid to a Lysine residue and creates a premature Stop codon at position 5 of the new reading frame, denoted p.ARg2480LysfsX5. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.7439_7440delGA variant is not observed in large population cohorts (Lek et al., 2016).
Genetic Services Laboratory, University of Chicago RCV000146725 SCV000194043 pathogenic Cornelia de Lange syndrome 1 2013-02-08 criteria provided, single submitter clinical testing

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