Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001942806 | SCV002130362 | pathogenic | Leukocyte adhesion deficiency 1 | 2021-05-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val353Serfs*26) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with ITGB2-related conditions. This variant is not present in population databases (ExAC no frequency). |