Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001053684 | SCV001217958 | uncertain significance | Combined immunodeficiency due to LRBA deficiency | 2021-08-24 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine with valine at codon 2575 of the LRBA protein (p.Ile2575Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs200047974, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with LRBA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Genetic Services Laboratory, |
RCV001819777 | SCV002068553 | uncertain significance | not specified | 2019-01-23 | criteria provided, single submitter | clinical testing |