ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.1537_1538del (p.Val513fs)

dbSNP: rs1230903176
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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 RCV001941551 SCV002236724 pathogenic Leukocyte adhesion deficiency 1 2021-08-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with leukocyte adhesion deficiency type 1 (PMID: 31374327). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val513Leufs*24) 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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