ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.286T>A (p.Cys96Ser)

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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 RCV003459892 SCV004190242 uncertain significance Glanzmann thrombasthenia 2023-10-17 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.286T>A (p.Cys96Ser) missense variant has been reported in one patient (Patient 11, PMID: 31029159) with a clinical diagnosis of GT as well as abnormal platelet aggregation. No other lab studies were provided to point to a highly specific GT phenotype. This variant was homozygous in the reported individual (Patient 11, PMID: 31029159) with a clinical diagnosis of GT (PM3_Supporting). The highest population minor allele frequency in gnomAD v 2.1.1 is 0.00003269 (1/30594 alleles) in the South Asian population (PM2_Supporting). This variant has a REVEL score of 0.8 which is above the threshold of >0.7 established by the PD EP (PP3_Met). 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, PP3 (VCEP specifications version 2.1).

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