ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2852_2853delinsC (p.Asp951fs)

dbSNP: rs2048524745
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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 RCV001225253 SCV001397510 uncertain significance Glanzmann thrombasthenia 2023-06-01 reviewed by expert panel curation The c.2852_2853delinsC variant has not been reported in the literature to our knowledge. This frameshift variant occurs in exon 28 and results in 51 altered amino acids followed by as stop loss and the elongation of the protein by 90 amino acids. This alters the entirety of the transmembrane domain which is critical to protein function (PMID: 25617834) as well as the cytoplasmic domain (PVS1_Strong). The variant is absent from population databases including gnomADv2.1.1 (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: PM2_Supporting, PVS1_Strong (PD VCEP specifications version 2.1).

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