ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.115T>G (p.Cys39Gly)

dbSNP: rs1880497383
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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 RCV001225279 SCV001397548 likely pathogenic Glanzmann thrombasthenia 2023-05-16 reviewed by expert panel curation The NM_000212.3(ITGB3):c.115T>G variant that results in the Cys39Gly amino acid change is reported in one homozygous individual in the literature (PMID: 16463284; PM3_supporting). Proband from PMID: 1646328 meets the criteria for PP4_Moderate; including mucocutaneous bleeding and impaired aggregation with all agonists except ristocetin. It is absent in population databases (PM2_supporting) and is predicted damaging by in-silico tools (REVEL score of 0.939; PP3). Experimental evidence shows reduced surface expression of integrin αIIbβ3 PMID: 16463284; PS3_moderate). In summary, this variant meets the criteria to be classified as Likely Pathogenic for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PP4_moderate, PM2_supporting, PM3_supporting, PP3, PS3_moderate. (VCEP specifications version 2).

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