ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.887_901del (p.Asp296_His300del)

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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 RCV003222577 SCV003916005 likely pathogenic Glanzmann thrombasthenia 2023-04-06 reviewed by expert panel curation NM_000212.3(ITGB3):c.887_901del (p.Asp296_His300del) is an in frame deletion variant predicted to remove 5 amino acid residues (PM4). At least one patient (Patient GT41 in PMID:19691478) who was homozygous for this variant displayed mucocutaneous bleeding and impaired aggregation with all agonists except ristocetin, which is highly specific for Glanzmann thrombasthenia (PP4_moderate, PM3_supporting). The highest population minor allele frequency in gnomAD v2.1.1 is 0.00003266 (1/30616alleles) in the South Asian population, which meets criteria for PM2_supporting. In summary, this variant meets the criteria to be classified as likely pathogenic for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PM2_Supporting, PM4, PP4_moderate, and PM3_supporting. (VCEP specifications version 2; date of approval 04/06/2023)

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