Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000801784 | SCV000941579 | uncertain significance | Cornelia de Lange syndrome 1 | 2018-10-06 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with NIPBL-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with glutamine at codon 2061 of the NIPBL protein (p.Pro2061Gln). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and glutamine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). |