ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2842-1G>C

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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 RCV002511520 SCV002820909 uncertain significance Glanzmann thrombasthenia 2022-10-06 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.2842-1G>C variant occurs within the canonical splice acceptor site of intron 27. It is predicted to cause skipping of biologically-relevant-exon 28, resulting in an in-frame deletion of 34 amino acids (Arg948_Gln981del), removing 3% of the protein (PVS1_moderate). The study of platelet GPIIb mRNA by RT-PCR confirmed an exon 28 skipping in this patient (PMID: 11798398). GT type I patient MMc (PMID: 11798398) is homozygous for this variant (PM3_supporting). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). In summary, this variant meets the criteria to be classified as uncertain significance for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PVS1_moderate, PM2_supporting, PM3_supporting.

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