ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1591C>T (p.Gln531Ter)

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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 RCV002511514 SCV002820902 pathogenic Glanzmann thrombasthenia 2022-10-06 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.1591C>T (p.Gln531Ter) nonsense variant in exon 16/30 is predicted to to cause a premature stop codon in a biologically-relevant-exon and is predicted to lead to nonsense mediated decay in a gene in which loss-of-function is an established disease mechanism (PVS1). GT type 1 patient NA (PMID: 11798398) is homozygous for this variant (PM3_supporting). This variant is absent from 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, PM3_supporting.

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