ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1553T>A (p.Ile518Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV003222567 SCV003915986 likely pathogenic Glanzmann thrombasthenia 2023-03-21 reviewed by expert panel curation The p.Ile518Asn variant on ITGA2B gene is a missense variant that is present in extremely low frequencies (0.00087%, 1/118416 alleles) in the European non_Finnish subpopulation of gnomAD. One proband harboring this variant in the compound heterozygous state with a likely pathogenic splice site variant, c.1946+3G>T, met PD-VECP criteria for the Glanzmann thrombasthenia phenotype. Multiple in silico predictors predict this variant to be deleterious (REVEL score=0.809). This variant meets PD-VCEP criteria for PP4_strong, PM2_supporting, PM3_supporting and PP3, and is classified as likely pathogenic.

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