ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2015del (p.Gly672fs)

dbSNP: rs2143451028
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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 RCV001580236 SCV001809873 pathogenic Glanzmann thrombasthenia 2021-07-08 reviewed by expert panel curation The ITGA2B frameshift variant NM_000419.5:c.2015del is expected to introduce a premature termination codon 23 amino acids downstream (p.Gly672AlafsTer23) in exon 20/30 and the resulting mRNA product is predicted to be susceptible to 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) (GT12, 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, PP4_moderate, PM2_supporting, and PM3_supporting.

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