Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV001782318 | SCV002016742 | likely pathogenic | Leukocyte adhesion deficiency 1 | 2020-06-08 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001782318 | SCV002810982 | likely pathogenic | Leukocyte adhesion deficiency 1 | 2022-04-19 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001782318 | SCV004298802 | pathogenic | Leukocyte adhesion deficiency 1 | 2023-08-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1324598). This premature translational stop signal has been observed in individual(s) with leukocyte adhesion deficiency (PMID: 14512306). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Glu734*) 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). |