Submissions for variant NM_000211.5(ITGB2):c.562C>T (p.Arg188Ter)

gnomAD frequency: 0.00001  dbSNP: rs148877937

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Blueprint Genetics	RCV000788950	SCV000928251	pathogenic	not provided	2019-02-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001226542	SCV001398861	pathogenic	Leukocyte adhesion deficiency 1	2023-09-01	criteria provided, single submitter	clinical testing	ClinVar contains an entry for this variant (Variation ID: 636972). This premature translational stop signal has been observed in individuals with leukocyte adhesion deficiency (PMID: 16595236, 21103413, 30412664). This variant is present in population databases (rs148877937, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg188*) 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV001226542	SCV002512756	pathogenic	Leukocyte adhesion deficiency 1	2022-02-08	criteria provided, single submitter	clinical testing	ACMG classification criteria: PVS1 very strong, PS4 strong, PM2 moderate, PM3 strong