Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001896457 | SCV002158967 | pathogenic | Combined immunodeficiency due to LRBA deficiency | 2022-07-19 | criteria provided, single submitter | clinical testing | Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1392922). This variant has not been reported in the literature in individuals affected with LRBA-related conditions. This sequence change creates a premature translational stop signal (p.Ser2101*) in the LRBA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LRBA are known to be pathogenic (PMID: 26206937, 26768763). |