ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.1179G>C (p.Arg393Ser)

gnomAD frequency: 0.00001  dbSNP: rs1162085262
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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 RCV001981652 SCV002224139 uncertain significance Leukocyte adhesion deficiency 1 2021-07-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 393 of the ITGB2 protein (p.Arg393Ser). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ITGB2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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