ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1440-1G>A

dbSNP: rs1598379928
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV000852029 SCV001809902 uncertain significance Glanzmann thrombasthenia 2024-06-06 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.1440-1G>A splice variant is predicted to result in the loss of exon 15 causing an in-frame deletion of 35 amino acids. This occurs in the the critical ligand binding extracellular domain (PVS1_Strong). This variant is absent from gnomAD v4.0 (PM2_Supporting). It reported in one patient stated to have a disease of platelet function (PMID: 31064749) but information was insufficient or inconsistent to apply any evidence for this patient. In summary, based on the evidence available at this time, the variant is classified as uncertain significance. GT-specific criteria applied: PVS1_strong, PM2_supporting.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852029 SCV000899505 pathogenic Glanzmann thrombasthenia 2019-02-01 criteria provided, single submitter research

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