Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Victorian Clinical Genetics Services, |
RCV000408616 | SCV000484426 | pathogenic | Cornelia de Lange syndrome 1 | 2014-11-03 | criteria provided, single submitter | clinical testing | This heterozygous variant results in an insertion of a stop codon and premature truncation of the protein, p.(Gln2384*). This is a novel truncating mutation which is predicted to be disease-causing by in-silico software. Haploinsufficiency is the commonest mechanism of pathogenicity in NIPBL-associated Cornelia de Lange syndrome. |