ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1563T>A (p.Cys521Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV002511535 SCV002820930 likely pathogenic Glanzmann thrombasthenia 2022-08-05 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.1563T>A (p.Cys521Ter) nonsense variant in exon 16/30 is predicted to lead to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1). This variant has been observed in heterozygosity in an individual with a laboratory phenotype (platelet aggregation and surface expression) consistent with Glanzmann's thrombasthenia (GT), however a second ITGA2B variant was not identified and sufficient bleeding phenotype information to confirm if the individual's phenotype is specific for GT was not provided. This variant is absent from gnomAD v2.1.1 (PM2_Supporting). In summary this variant meets criteria to be classified as likely pathogenic for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PVS1, PM2_supporting. (VCEP specifications version 2.1)

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