Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000704395 | SCV000833343 | uncertain significance | Agammaglobulinemia 2, autosomal recessive | 2018-05-21 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the IGLL1 gene (p.Gln185*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 29 amino acids of the IGLL1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with IGLL1-related disease. 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. |