ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.3061G>T (p.Val1021Phe)

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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 RCV003606701 SCV004513374 uncertain significance Glanzmann thrombasthenia 2023-03-14 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. 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. This variant has not been reported in the literature in individuals affected with ITGA2B-related conditions. This variant is present in population databases (rs755197006, gnomAD 0.0009%). This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1021 of the ITGA2B protein (p.Val1021Phe).

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