ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.1888G>T (p.Glu630Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004764379 SCV005373688 uncertain significance Leukocyte adhesion deficiency 1 2023-05-20 criteria provided, single submitter clinical testing The stop gained variant c.1888G>T(p.Glu630Ter) in the ITGB2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is absent in the gnomAD Exomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants has been previously reported to be disease-causing (van de Vijver et al., 2012). For these reasons, this variant has been classified as Likely Pathogenic.

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