ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.574+1G>A

gnomAD frequency: 0.00001  dbSNP: rs1291613591
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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 RCV001803435 SCV002047587 pathogenic Glanzmann thrombasthenia 2021-09-03 reviewed by expert panel curation The c.574+1G>A variant on ITGA2B is a canonical splice donor variant located in intron 4 and predicted to cause skipping of exon 4. It is present in very low frequencies (0.001%) in large population databases (gnomAD). This variant has been previously reported in at least one individual who meets diagnostic criteria of for the GT phenotype. This variant meets GT specific criteria for PVS1, PP4_strong and PM2_supporting, and is therefore classified as Pathogenic.

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