ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.263G>A (p.Arg88Gln)

gnomAD frequency: 0.00005  dbSNP: rs200358667
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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 RCV000852096 SCV002525918 uncertain significance Glanzmann thrombasthenia 2022-06-13 reviewed by expert panel curation The NM_000212.3(ITGB3):c.263G>A variant in ITGB3 is a missense variant predicted to cause substitution of arginine by glutamine at amino acid 88 (Arg88Gln). One patient with the heterozygous Arg88Gln variant and a platelet function defect in PMID: 31064749; however other information such as bleeding history, platelet aggregometry or glycoprotein expression is not available. PP4 criteria not met. The variant is described as a platelet antigen in the literature, determining the HPA-10 genotype. The computational predictor REVEL gives a score of 0.167, which is below the ClinGen PD VCEP threshold of <0.25 and predicts no damaging effect on ITGB3 function (BP4). No splicing impact is expected (SpliceAI predicts a donor gain at at -14bp with a delta score of 0.04) (BP4). Due to insufficient evidence, this variant is classified as a variant of unknown significance for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD-VCEP: (list criteria applied) BP4. ( VCEP specifications version 2; date of approval: 05/17/2022)
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852096 SCV000899637 uncertain significance Glanzmann thrombasthenia 2019-02-01 criteria provided, single submitter research

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