ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.624+5G>A

gnomAD frequency: 0.00001  dbSNP: rs373730428
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV000851834 SCV001478486 uncertain significance Glanzmann thrombasthenia 2023-12-19 reviewed by expert panel curation The intronic variant c.624+5G>A has been reported in one compound heterozygous GT patient (PMID: 31064749) with the second variant of Asp396Asn (classified Pathogenic by PD-EP; PM3_supporting). It occurs at an extremely low frequency, (below the PM2_supporting <1/10,000 threshold) with a MAF of 0.00003729 (44/1,180,018) in the gnomADv4.0 non-Finnish European population. SpliceAI predicts a loss of the donor splice site (delta score 0.77; PP3). In summary, this variant meets criteria to be classified as uncertain significance. GT-specific criteria applied: PM2_supporting, PM3_supporting, PP3.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851834 SCV000899834 uncertain significance Glanzmann thrombasthenia 2019-02-01 criteria provided, single submitter research

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