ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.856G>C (p.Gly286Arg)

dbSNP: rs1199275720
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV002510970 SCV002820929 uncertain significance Glanzmann thrombasthenia 2022-08-05 reviewed by expert panel curation The NM_000212.3(ITGB3):c.856G>C (p.Gly286Arg) missense variant has been reported in at least one homozygous patient with abnormal bleeding (PMID: 31064749). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). The computational predictor REVEL gives a score of 0.969 (PP3). The same amino acid change, resulting from a different nucleotide change c.856G>A, has been reported in a patient with Glanzmann thrombasthenia (PMIDs: 32237906, 21113249) and classified as Likely Pathogenic (PS1_moderate). 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: PS1_moderate, PM2_supporitng, PP3. (VCEP specifications version 2; date of approval 08/04/2022).
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851903 SCV000899968 likely pathogenic Abnormal bleeding 2019-02-01 criteria provided, single submitter research

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