Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001223841 | SCV001396008 | uncertain significance | Common variable immunodeficiency 8, with autoimmunity | 2020-08-25 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with glycine at codon 2029 of the LRBA protein (p.Asp2029Gly). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LRBA-related conditions. 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: Tolerated; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). 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. 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. |
| UOSD Laboratory of Genetics & Genomics of Rare Diseases, |
RCV001223841 | SCV001424086 | likely benign | Common variable immunodeficiency 8, with autoimmunity | 2020-05-21 | no assertion criteria provided | clinical testing |