Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV002511140 | SCV002820960 | pathogenic | Glanzmann thrombasthenia | 2022-12-01 | reviewed by expert panel | curation | NM_000212.3(ITGB3):c.1986dup (p.Asp663Ter) found in a homozygous proband (PMID: 29084015; PM3_supporting) causes a premature stop codon at exon 12 and is predicted to undergo nonsense mediated decay (PVS1). The affected individual displayed abnormal bleeding and an impaired response to agonists, with a normal response to ristocetin, which is characteristic of GT. Additionally, αIIbβ3 surface expression was absent (<25%), as measured by flow cytometry (PP4_strong). The variant was not found in gnomAD v2.1.1 (PM2_supporting). In summary the criteria PSV1, PP4_strong, PM2_supporting, and PM3_supporting, were applied to reach a classification of pathogenic. |
ISTH- |
RCV002245424 | SCV002515670 | likely pathogenic | Glanzmann thrombasthenia 1 | no assertion criteria provided | research |