ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2338G>A (p.Glu780Lys)

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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 RCV002591012 SCV002958305 uncertain significance Glanzmann thrombasthenia 2022-04-17 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 tolerated. This variant has not been reported in the literature in individuals affected with ITGA2B-related conditions. This variant is present in population databases (rs754656542, gnomAD 0.03%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 780 of the ITGA2B protein (p.Glu780Lys).

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