Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000650426 | SCV000772271 | uncertain significance | Combined immunodeficiency due to LRBA deficiency | 2022-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 2832 of the LRBA protein (p.Asp2832Asn). This variant is present in population databases (rs191145485, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with LRBA-related conditions. ClinVar contains an entry for this variant (Variation ID: 540401). 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. |
| Blueprint Genetics | RCV000788516 | SCV000927663 | uncertain significance | not provided | 2018-04-30 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002531961 | SCV003719087 | uncertain significance | Inborn genetic diseases | 2021-09-01 | criteria provided, single submitter | clinical testing | The c.8494G>A (p.D2832N) alteration is located in exon 57 (coding exon 56) of the LRBA gene. This alteration results from a G to A substitution at nucleotide position 8494, causing the aspartic acid (D) at amino acid position 2832 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |