ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.1835G>A (p.Cys612Tyr)

dbSNP: rs2143130239
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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 RCV001580223 SCV001809857 uncertain significance Glanzmann thrombasthenia 2024-02-20 reviewed by expert panel curation The ITGB3 missense variant NM_000212.3:c.1835G>A replaces the cysteine residue with a tyrosine residue (p.Cys612Tyr) and is absent from control population databases, including gnomADv4.0 (PM2_supporting). This variant has been observed in homozygosity (PM3_supporting) in an proband reported to have Glanzmann's thrombasthenia (GT) (GT-27 in PMID: 30792900), however sufficient information to confirm if the individual's phenotype is specific for GT were not provided. In silico tools predict the variant is damaging to protein function (REVEL score of 0.964; PP3). In summary, this variant is of uncertain significance and lacks sufficient evidence to be classified as pathogenic or benign for GT. GT-specific criteria applied: PP3, PM2_supporting, PM3_supporting.
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989697 SCV004807959 likely pathogenic Glanzmann thrombasthenia 2 2024-03-29 criteria provided, single submitter clinical testing

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