Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000804458 | SCV000944369 | uncertain significance | Combined immunodeficiency due to LRBA deficiency | 2020-02-24 | 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 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with LRBA-related disease. This variant is present in population databases (rs769836776, ExAC 0.002%). This sequence change replaces alanine with glycine at codon 679 of the LRBA protein (p.Ala679Gly). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and glycine. |