ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.302A>G (p.Gln101Arg)

gnomAD frequency: 0.00001  dbSNP: rs763707922
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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 RCV000544000 SCV000634164 uncertain significance Leukocyte adhesion deficiency 1 2017-07-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with ITGB2-related disease. 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). This variant is present in population databases (rs763707922, ExAC 0.001%). This sequence change replaces glutamine with arginine at codon 101 of the ITGB2 protein (p.Gln101Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine.

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