ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2396G>C (p.Arg799Thr)

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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 RCV003606958 SCV004551056 uncertain significance Glanzmann thrombasthenia 2023-02-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 799 of the ITGA2B protein (p.Arg799Thr). This variant is present in population databases (rs776803112, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with ITGA2B-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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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