Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
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- |
RCV002245330 | SCV002515513 | likely pathogenic | Glanzmann thrombasthenia 1 | no assertion criteria provided | research |