Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001046437 | SCV001210341 | uncertain significance | Combined immunodeficiency due to LRBA deficiency | 2022-07-17 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 1132 of the LRBA protein (p.Asn1132Tyr). This variant is present in population databases (rs769386027, gnomAD 0.01%). 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: 843751). 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. 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. |
Mayo Clinic Laboratories, |
RCV001508514 | SCV001714726 | uncertain significance | not provided | 2020-03-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003346275 | SCV004061173 | uncertain significance | Inborn genetic diseases | 2023-08-19 | criteria provided, single submitter | clinical testing | The c.3394A>T (p.N1132Y) alteration is located in exon 23 (coding exon 22) of the LRBA gene. This alteration results from a A to T substitution at nucleotide position 3394, causing the asparagine (N) at amino acid position 1132 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |