ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.188+5G>T

dbSNP: rs1598385156
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV004577532 SCV005061685 uncertain significance Glanzmann thrombasthenia 2024-05-02 reviewed by expert panel curation The intronic variant NM_000419.5(ITGA2B):c.188+5G>T has been reported in one individual with a disorder of platelet function (TGP0048 in PMID:31064749). Communication with the authors confirmed a diagnosis of Glanzmann thrombasthenia. The patient had impaired platelet aggregation and prolonged bleeding after dental extraction. This individual, TGP0048, is compound heterozygous for this variant and a likely pathogenic frameshift variant (NM_000419.5(ITGA2B):c.1973del), phasing unspecified. The variant is absent from gnomAD (PM2_supporting). The computational splicing predictor SpliceAI gives a score of 0.14 for donor site loss, which indicates the variant has no affect on splicing (PP3 not met). Meanwhile, the variant occurs at a nucleotide position that is highly conserved, as shown by phyloP score of 3.27 (BP7 not met). In summary, this variant meets the criteria to be classified as variant of uncertain significance- insufficient evidence for autosomal recessive Glanzmann Thrombasthenia based on no ACMG/AMP criteria applied.(VCEP specifications version 2.1.0).
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852064 SCV000899573 uncertain significance Abnormal platelet aggregation 2019-02-01 criteria provided, single submitter research

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