ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.1801T>G (p.Cys601Gly)

dbSNP: rs747534508
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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 RCV001290476 SCV001478513 likely pathogenic Glanzmann thrombasthenia 2023-11-02 reviewed by expert panel curation The NM_000212.3:c.1801T>G in ITGB3 results in the missense change, Cys601Gly. The variant is absent from gnomAD v2.1.1 and v3 and meets criteria for PM2. The variant is reported in a homozygous (PM3_supporting) GT patient meeting the GT phenotype criteria (PMID: 16879215; PP4_moderate). The REVEL score for this variant is high (0.985), meeting PP3. The variant occurs at the same residue at which another missense variant, Cys601Arg, which has been classified as pathogenic by the Platelet Disorders VCEP (PM5). In summary, this variant meets criteria to be classified as likely pathogenic. GT-specific criteria met: PM2_Supporting, PP4_Moderate, PP3, PM3_Supporting, PM5.

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