ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1162G>A (p.Gly388Ser)

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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 RCV002511530 SCV002820922 uncertain significance Glanzmann thrombasthenia 2022-09-20 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.1162G>A (p.Gly388Ser) missense variant has been reported in at least one patient (UPN 4 in PMID: 16879215) with this variant displayed mucocutaneous bleeding and impaired aggregation with all agonists except ristocetin, which is highly specific for Glanzmann thrombasthenia (PP4_moderate). UPN 4 is homozygous for this variant (PM3_supporting; PMID: 16879215). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). The computational predictor REVEL gives a score of 0.855, which is above the ClinGen PD VCEP threshold of >0.7 and predicts a damaging effect on function (PP3). 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, PP4_moderate, PP3.

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