ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.68C>A (p.Pro23His)

dbSNP: rs201184269
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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 RCV001290466 SCV001478502 uncertain significance Glanzmann thrombasthenia 2024-03-07 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.68C>A (p.Pro23His) missense variant has been reported in at least one compound heterozygous GT proband (ASH poster abstract only: doi.org/10.1182/blood.V110.11.3921.3921). The variant is absent from all population database cohorts, including gnomADv4.0 (PM2_supporting). In summary this variant meets criteria to be classified as uncertain significance for GT. GT-specific criteria applied: PM2_Supporting.

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