ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.138dup (p.Gly47fs)

dbSNP: rs2143506473
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV003464410 SCV004190252 pathogenic Glanzmann thrombasthenia 2023-12-19 reviewed by expert panel curation NM_000419.5(ITGA2B):c.138dup (p.Gly47TrpfsTer?) is a frameshift variant in exon 2 resulting in a premature stop codon in exon 3, of 30, which is predicted to cause NMD (PVS1). This variant is absent from population databases including gnomADv4.0 (PM2_supporting). One homozygous patient has reported with lab results consistent with type I Glanzmann Thrombasthenia (ClinVar SCV002515513.1; PM3_supporting). In summary this variant is classified as Pathogenic for Glanzmann thrombasthenia, meeting PD-VCEP specified criteria for GT: PVS1, PM2_supporting, and PM3_supporting.
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245330 SCV002515513 likely pathogenic Glanzmann thrombasthenia 1 no assertion criteria provided research

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