ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2578C>T (p.Gln860Ter)

dbSNP: rs2143437407
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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 RCV002254821 SCV002525914 pathogenic Glanzmann thrombasthenia 2022-04-15 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.2578C>T (p.Gln860Ter) nonsense variant in exon 25/30 is predicted to lead to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1). Glanzmann thrombasthenia Patient 6 of PMID: 34267460 is homozygous for this variant (PM3_supporting). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). In summary this variant meets 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, PM3_supporting. (VCEP specifications version 2.1)

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