Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003845602 | SCV004643289 | pathogenic | Leukocyte adhesion deficiency 1 | 2023-12-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln491*) in the ITGB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ITGB2 are known to be pathogenic (PMID: 22134107, 25703682). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ITGB2-related conditions. For these reasons, this variant has been classified as Pathogenic. |