ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.859G>C (p.Gly287Arg)

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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 RCV002511557 SCV002820954 uncertain significance Glanzmann thrombasthenia 2022-12-01 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.859G>C (p.Gly287Arg) missense variant has been reported in at least one patient (Patient 5 in PMID:19172520/GT database record 162) who displayed mucocutaneous bleeding and impaired aggregation with all agonists except ristocetin, which is highly specific for Glanzmann thrombasthenia (PP4_moderate). Additionally, αIIbβ3 surface expression was reduced to <10%, as measured by flow cytometry. Patient 5 (PMID: 19172520/GT database record 162) is homozygous for this variant (0.5pt; PM3_Supporting). This variant is absent from gnomAD v2.1.1 (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: PP4_Moderate, PM2_Supporting, PM3_Supporting (VCEP specifications version 2.1).

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