ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.889G>A (p.Ala297Thr)

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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 RCV002606420 SCV003498580 uncertain significance Glanzmann thrombasthenia 2023-04-06 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2181978). 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 tolerated. This variant has not been reported in the literature in individuals affected with ITGA2B-related conditions. This variant is present in population databases (rs531610168, gnomAD 0.03%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 297 of the ITGA2B protein (p.Ala297Thr).

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