ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.624+2C>A

dbSNP: rs2048635467
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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 RCV001225245 SCV001397497 pathogenic Glanzmann thrombasthenia 2020-09-06 reviewed by expert panel curation The canonical splice site variant NM_000419.4:c.624+2C>A predicted to affect splicing at intron 5 causing a frameshift and premature stop codon that leads to NMD (confirmed in by RT-PCR in patient cells). This variant is absent from all population databases but has been reported in one compound heterozygous proband with a phenotype highly specific to GT (PMID: 9920835). In summary, this variant meets criteria to be classified as Pathogenic for GT. GT-specific criteria applied: PVS1, PM2_Supporting, and PP4_Moderate.

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