ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1211-78A>G

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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 RCV002511529 SCV002820921 uncertain significance Glanzmann thrombasthenia 2022-09-20 reviewed by expert panel curation The NM_000419.5 (ITGA2B):c.1211-78A>G intronic variant occurs at a nucleotide that is modestly conserved (phyloP score 0.988) but is not predicted by SpliceAI (or varSEAK) to have an impact splicing (BP7). It has been reported heterozygous in potential GT patient MB (PMID: 11798398; insufficient to meet any criteria). 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: BP7, PM2_supporting.

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