ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1229C>G (p.Pro410Arg)

gnomAD frequency: 0.00001  dbSNP: rs773649547
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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 RCV001290506 SCV001478548 uncertain significance Glanzmann thrombasthenia 2023-12-19 reviewed by expert panel curation NM_000419.5(ITGA2B):c.1229C>G (p.Pro410Arg) missense variant has been reported in at least one compound heterozygous GT proband (PMID: 32237906) with pathogenic variant Gln778Pro (PM3_supporting). GT9 of PMID: 32237906 meets the criteria for PP4_Moderate; including mucocutaneous bleeding and impaired aggregation with all agonists except ristocetin. Additionally there was 21% expression of GPIIb was measured by flow cytometry. The variant occurs at an extremely low frequency with a MAF of 0.000008941 in the non-Finnish European gnomAD population (PM2_supporting). Computational evidence supports a deleterious effect with a REVEL score of 0.816 (PP3). In summary this variant meets criteria to be classified as uncertain significance for GT. GT-specific criteria applied: PM2_Supporting,PM3_Supporting, PP3, and PP4_Moderate.

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