ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2507G>C (p.Gly836Ala)

dbSNP: rs759664025
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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 RCV000852088 SCV005061687 uncertain significance Glanzmann thrombasthenia 2024-05-02 reviewed by expert panel curation The c.2507G>C variant in ITGA2B is a missense variant predicted to cause substitution of Glycine by Alanine at amino acid 836 (p.Gly836Ala). This variant is absent from gnomAD v4.0.0 (PM2_Supporting). The computational predictor REVEL gives a score of 0.152, which is below the ClinGen PD VCEP threshold of <0.25 and predicts no damaging effect on ITGA2B function (BP4). A male patient is reported homozygous this variant (TGP0413 in PMID: 31064749; PM3_Supporting) however, his phenotype is not detailed enough to apply PP4 as specified by the PD VCEP. Due to conflicting 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: PM2_Supporting, PM3_Supporting and BP4 (VCEP specifications version 2).
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852088 SCV000899629 likely pathogenic Glanzmann thrombasthenia 2019-02-01 criteria provided, single submitter research

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