ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2384AAG[1] (p.Glu796del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV003313885 SCV004013093 uncertain significance Platelet-type bleeding disorder 16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003500834 SCV004277727 uncertain significance Glanzmann thrombasthenia 2023-12-07 criteria provided, single submitter clinical testing This variant, c.2387_2389del, results in the deletion of 1 amino acid(s) of the ITGA2B protein (p.Glu796del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ITGA2B-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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