ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1616T>G (p.Leu539Arg)

dbSNP: rs2048581782
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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 RCV001290491 SCV001478529 uncertain significance Glanzmann thrombasthenia 2023-05-16 reviewed by expert panel curation The NM_000419.5:c.1616T>G variant in ITGA2B predicts the missense change, Leu539Arg. The variant is absent from gnomAD v2.1.1 and v3 (PM2_supporting). The variant is reported in an individual homozygous for this variant (PM3_supporting) and the His540Arg in ITGA2B, not meeting criteria for PP4 (PMID: 30792900). The variant also has a moderate REVEL score (0.644) not meeting criteria for PP3 (>0.7) or BP4 (<0.25). 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, PM3_supporting (PD VCEP specifications version 2.1).

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