ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.1759del (p.Arg587fs)

dbSNP: rs2146498117
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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 RCV001881512 SCV002148977 pathogenic Leukocyte adhesion deficiency 1 2021-04-16 criteria provided, single submitter clinical testing 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). This sequence change creates a premature translational stop signal (p.Arg587Valfs*46) 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).

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