ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.799+2T>C

dbSNP: rs1194700242
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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 RCV001290485 SCV001478523 pathogenic Glanzmann thrombasthenia 2020-11-10 reviewed by expert panel curation The c.799+2T>C splice variant has been reported in at least one compound heterozygous proband (PMID: 29675921) with a phenotype highly specific to GT. It is predicted to cause the in-frame skipping of exon 7 which is part of the critical ligand binding domain. This variant is absent from controls in gnomAD, ExAC, and 1000 genomes. In summary, this variant meets criteria to be classified as Pathogenic for GT. GT-specific criteria applied: PVS1_Strong, PM2_Supporting, PM3_Supporting, and PP4_Strong.

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