ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.949C>T (p.Gln317Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002657962 SCV002972296 pathogenic Leukocyte adhesion deficiency 1 2023-08-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln317*) 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 (rs760990531, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with ITGB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1936220). For these reasons, this variant has been classified as Pathogenic.

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