ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2480G>T (p.Gly827Val)

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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 RCV003095664 SCV003486794 uncertain significance Glanzmann thrombasthenia 2022-02-14 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals affected with ITGA2B-related conditions. This variant is present in population databases (rs756871533, gnomAD 0.009%). This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 827 of the ITGA2B protein (p.Gly827Val).

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