ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2347G>A (p.Gly783Arg)

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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 RCV003606702 SCV004513408 uncertain significance Glanzmann thrombasthenia 2023-10-04 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 783 of the ITGA2B protein (p.Gly783Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Glanzmann thrombasthenia (Invitae). 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 disruptive. 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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