Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001044708 | SCV001809925 | pathogenic | Glanzmann thrombasthenia | 2020-12-09 | reviewed by expert panel | curation | The p.Leu717fsTer3 variant on ITGA2B is a frameshift variant located on exon 21,which is predicted to introduce a premature stop codon leading to nonsense medicated decay and loss of protein function. This variant has been reported in at least one proband in a homozygous state who meets criteria for the GT phenotype. This variant is absent from all large population databases. In summary, p.Leu717fs*3 variant meets criteria for PVS1, PP4_strong, PM3_supporting and PM2_supporting and is classified as Pathogenic for GT. |
NIHR Bioresource Rare Diseases, |
RCV000852070 | SCV000899595 | likely pathogenic | Macrothrombocytopenia | 2019-02-01 | criteria provided, single submitter | research | |
Invitae | RCV001044708 | SCV001208519 | pathogenic | Glanzmann thrombasthenia | 2020-02-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ITGA2B are known to be pathogenic (PMID: 21917754). This variant has been observed in individual(s) with autosomal recessive Glanzmann thrombasthenia (PMID: 25728920). ClinVar contains an entry for this variant (Variation ID: 627273). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu717Alafs*3) in the ITGA2B gene. It is expected to result in an absent or disrupted protein product. |