ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1211-1G>C

dbSNP: rs1598380380
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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 RCV000851671 SCV005061686 likely pathogenic Glanzmann thrombasthenia 2024-05-02 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.1211-1G>C splice variant is predicted to result in the loss of exon 13, causing an in-frame deletion of 60 amino acids. This exon loss occurs within the critical ligand binding extracellular domain (PVS1_strong). The variant is absent from gnomADv4.0.0 (PM2_supporting). The variant has has been reported in one homozygous patient stated to Glanzmann thrombasthenia (PM3_supporting, PMID: 31064749). In summary, this variant meets the criteria to be classified as Likely Pathogenic for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PM2_Supporting, PM3_supporting, PVS1_strong (PD VCEP specifications version 2.1).
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851671 SCV000899455 likely pathogenic Glanzmann thrombasthenia 2019-02-01 criteria provided, single submitter research

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