ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1545-1del

dbSNP: rs2048583710
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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 RCV001225249 SCV001397501 pathogenic Glanzmann thrombasthenia 2020-09-06 reviewed by expert panel curation The splicing variant, c.1545-1del, has been observed in at least three compound heterozygous patients (PMIDs: 1060770 and 20819594, 32237906). The canonical splice variant is predicted to cause the skipping of exon 16, causing a frameshift and a premature stop codon in exon 18 of 30 leading to NMD.The variant is absent form ExAC, gnomAD, and 1000 Genomes. In summary, this variant meets criteria to be classified as Pathogenic for GT. GT-specific criteria applied: PVS1, PM2_Supporting, PP4_Moderate.

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