ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.1602C>A (p.Cys534Ter)

dbSNP: rs748574145
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255314 SCV000321783 pathogenic not provided 2015-08-28 criteria provided, single submitter clinical testing The C534X variant has been reported previously in association with leukocyte adhesion deficiency (LAD-1) (López-Rodríguez et al., 1993; Roos et al., 1993). This variant is also predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. In addition, studies of the C534X variant suggest that it decreases mRNA expression (Shaw et al., 2001).
Labcorp Genetics (formerly Invitae), Labcorp RCV003522952 SCV004353298 pathogenic Leukocyte adhesion deficiency 1 2023-08-21 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: 265200). This sequence change creates a premature translational stop signal (p.Cys534*) 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 present in population databases (no rsID available, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with leukocyte adhesion deficiency (PMID: 7901025, 11882363).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.