Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001580213 | SCV001809846 | pathogenic | Glanzmann thrombasthenia | 2021-06-15 | reviewed by expert panel | curation | The ITGB3 nonsense variant NM_000212.3:c.774T>A (p.Cys258Ter) is expected to introduce a premature termination codon and the resulting mRNA product is predicted to undergo nonsense mediated decay, leading to loss of normal protein function. This variant has been observed in homozygosity in one individual with a phenotype specific for Glanzmann's thrombasthenia (GT) (Patient N, PMID: 26096001). Furthermore, this variant is absent from population databases. In summary, this variant meets criteria to be classified as pathogenic for GT. GT-specific criteria applied: PVS1, PM2_supporting, PM3_supporting, PP4_moderate. |
ISTH- |
RCV002254214 | SCV002525470 | likely pathogenic | Glanzmann thrombasthenia 1 | no assertion criteria provided | research |