Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000650419 | SCV000772264 | uncertain significance | Combined immunodeficiency due to LRBA deficiency | 2017-11-01 | 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 present in population databases (rs747052936, ExAC 0.002%). This sequence change affects codon 553 of the LRBA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the LRBA protein. |