ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.240_241del (p.Glu80fs)

dbSNP: rs2048646560
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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 RCV001254662 SCV001809921 pathogenic Glanzmann thrombasthenia 2022-06-08 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.240_241del (p.Glu80fs) frameshift variant occurs in exon 2 of 30 where it creates a premature stop codon and is predicted to result in NMD. At least one patient (P1 in PMID: 34275420) is homozygous for this variant (PM3_supporting) and displayed mucocutaneous bleeding and impaired aggregation with all agonists except ristocetin, which is highly specific for Glanzmann thrombasthenia. Additionally, alphaIIbbeta3 surface expression was reduced to <5%, as measured by flow cytometry (PP4_strong). It is absent from gnomAD, ExAC, 1000 Genomes, and ESP. In summary, this variant meets criteria to be classified as pathogenic for GT. GT-specific criteria applied: PP4_Strong, PM2_Supporting, PM3_supporting, and PVS1.
Departement d'Immunology Plaquettaire, Institut National de la Transfusion Sanguine RCV001254662 SCV001430681 pathogenic Glanzmann thrombasthenia criteria provided, single submitter provider interpretation The variant alters the expression of the platelets fibrinogen receptor alphaIIb beta3

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