Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001071919 | SCV001237251 | pathogenic | Cornelia de Lange syndrome 1 | 2019-05-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the NIPBL protein. Other variant(s) that disrupt this region (p.Arg2793*) have been observed in individuals with NIPBL-related conditions (PMID: 20824775). This suggests that this may be a clinically significant region of the protein. This variant has been observed to be de novo in an individual with Cornelia de Lange syndrome (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the NIPBL gene (p.Leu2778*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 27 amino acids of the NIPBL protein. |