ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.3076_3077delinsGC (p.Arg1026Ala)

dbSNP: rs2048505090
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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 RCV001290454 SCV001478488 uncertain significance Glanzmann thrombasthenia 2023-11-02 reviewed by expert panel curation The NM_000419.5:c.3076_3077delinsGC results in a missense change, Arg1026Ala. The variant is absent gnomAD v2.1.1 and v3. PMID: 12575292 reports on the variant, but the evidence does not meet GT criteria for phenotype or functional studies. In summary, there is insufficient evidence at this time to classify this variant. GT-specific criteria met: PM2_Supporting.

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