ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2883del (p.Phe961fs)

dbSNP: rs1598375779
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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 RCV000851764 SCV001809894 pathogenic Glanzmann thrombasthenia 2021-07-08 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.2883del variant that results in the p.Phe961LeufsTer? frameshift has been reported homozygous in at least one GT patient (PMID: 22190468) with a highly specific phenotype. The variant causes stop loss and the addition of 90 amino acids to the ITGA2B protein, which alters the transmembrane domain. The variant is absent from population databases. In summary, based on the available evidence at this time, the variant is classified as pathogenic for GT. GT-specific criteria applied: PVS1_Strong, PM2_Supporting, PM3_supporting, PP4_Strong.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851764 SCV000899651 pathogenic Glanzmann thrombasthenia 2019-02-01 criteria provided, single submitter research

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