ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2953C>T (p.Gln985Ter)

dbSNP: rs2143427792
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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 RCV001803413 SCV002047563 pathogenic Glanzmann thrombasthenia 2021-07-14 reviewed by expert panel curation The ITGA2B nonsense variant NM_000419.5:c.2953C>T (p.Gln985Ter) introduces a premature termination codon and the resulting mRNA product is predicted to undergo nonsense mediated decay, leading to loss of normal protein function. This variant has been observed in homozygosity in one individual with a phenotype specific for Glanzmann's thrombasthenia (GT) (GT38, PMID: 16463284). Furthermore, this variant is absent from population databases. In summary, this variant meets criteria to be classified as pathogenic for GT. GT-specific criteria applied: PVS1, PM2_Supporting, PM3_Supporting, PP4_Moderate.

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