ClinVar Miner

Submissions for variant NM_000211.5(ITGB2):c.827G>A (p.Gly276Asp)

dbSNP: rs1207286440
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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 RCV001239080 SCV001411927 uncertain significance Leukocyte adhesion deficiency 1 2022-03-11 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 964785). This variant has not been reported in the literature in individuals affected with ITGB2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 276 of the ITGB2 protein (p.Gly276Asp).

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