ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2421G>A (p.Trp807Ter)

dbSNP: rs2143439415
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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 RCV001803440 SCV002047592 pathogenic Glanzmann thrombasthenia 2021-09-03 reviewed by expert panel curation NM_000419.5(ITGA2B):c.2421G>A (p.Trp807Ter) is a nonsense variant located on exon 24 which is predicted to result in NMD. It is absent from all large population cohorts (gnomAD). This variant has been reported to occur in homozygous state in one proband who meets the diagnostic criteria for the GT phenotype (PMID: 25728920). This variant meets GT specific criteria for PVS1, PP4_moderate, PM2_supporting, and PM3_supporting and is therefore classified as Pathogenic.

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