Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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. |