ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2702C>A (p.Ser901Ter)

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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 RCV002511559 SCV002820956 pathogenic Glanzmann thrombasthenia 2022-11-15 reviewed by expert panel curation NM_000419.5(ITGA2B):c.2702C>A (p.Ser901Ter) found in three unrelated homozygous probands from Tunisia (PMID:30325339; PM3) causes a premature stop codon at exon 26 and is predicted to undergo nonsense mediated decay (PVS1). At least one patient with this variant displayed abnormal bleeding and an impaired response to agonists, with a normal response to ristocetin, which is characteristic of Glanzmann thrombasthenia (PMID:30325339; PP4_moderate). The variant was not found in gnomAD v2.1.1 (PM2_supporting). In summary, this variant meets the criteria to be classified as pathogenic for autosomal recessive Glanzmann thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PVS1, PM2_supporting, PP4_moderate, and PM3.

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