Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000801042 | SCV000940797 | uncertain significance | Combined immunodeficiency due to LRBA deficiency | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine with leucine at codon 2763 of the LRBA protein (p.Phe2763Leu). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is not present in population databases (ExAC no frequency). 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 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"). 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. |
Centogene AG - |
RCV000801042 | SCV002059607 | uncertain significance | Combined immunodeficiency due to LRBA deficiency | 2020-05-13 | criteria provided, single submitter | clinical testing |