ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.682C>T (p.Gln228Ter)

dbSNP: rs2048632227
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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 RCV001225293 SCV001397571 pathogenic Glanzmann thrombasthenia 2020-09-06 reviewed by expert panel curation The nonsense variant, NM_000419.4:c.682C>T (p.Gln228Ter), is expected to cause NMD of the resulting transcript. The variant is absent from population databases. The variant is reported in two compound heterozygous individual (PMIDs: 25728920 and 16463284). In summary, based on the evidence available at this time, the variant is classified as pathogenic. GT-specific criteria applied: PVS1, PM2_supporting, PP4_strong.

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