ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.1462C>T (p.Arg488Trp)

gnomAD frequency: 0.00006  dbSNP: rs766548458
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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 RCV001921374 SCV002199222 uncertain significance Leukocyte adhesion deficiency 1 2022-07-12 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). 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. ClinVar contains an entry for this variant (Variation ID: 1424064). This variant has not been reported in the literature in individuals affected with ITGB2-related conditions. This variant is present in population databases (rs766548458, gnomAD 0.04%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 488 of the ITGB2 protein (p.Arg488Trp).

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