Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001225268 | SCV001397534 | pathogenic | Glanzmann thrombasthenia | 2020-09-08 | reviewed by expert panel | curation | The NM_000419.5(ITGA2B):c.131G>T variant results in the Gly44Val missense change. It is absent in population databases and is predicted damaging by in silico tools (REVEL score of 0.797). A family of 3 compound heterozygous individuals is reported in the literature (PMID: 22394243, 25728920) with confirmation of the variants in trans. In summary, based on the evidence available at this time, the Gly44Val variant is classified Pathogenic. GT-specific criteria applied: PM2_Supporting, PM3, PP1_Moderate, PP4_Strong, PP3. |