Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000650417 | SCV000772262 | uncertain significance | Combined immunodeficiency due to LRBA deficiency | 2017-11-24 | criteria provided, single submitter | clinical testing | 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with LRBA-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the LRBA gene (p.Trp2855*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 9 amino acids of the LRBA protein. |
Blueprint Genetics | RCV000788567 | SCV000927722 | uncertain significance | not provided | 2018-06-04 | criteria provided, single submitter | clinical testing |