ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.435C>A (p.Asn145Lys)

dbSNP: rs1433566887
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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 RCV001290501 SCV001478541 uncertain significance Glanzmann thrombasthenia 2023-11-02 reviewed by expert panel curation The ITGA2B missense variant NM_000419.5:c.435C>A replaces the asparagine residue with a lysine residue (p.Asn145Lys). This variant has been observed in a proband (PMID 26096001) with a phenotype specific for Glanzmann's thrombasthenia (PP4_Moderate) who also harbors a second ITGA2B variant (c.531T>A, p.Cys177Ter) previously classified by the VCEP as pathogenic (phase unconfirmed; PM3_supporting). This variant is extremely rare in population databases, having been observed in 1/34534 alleles in the Latino population in gnomAD v2.1.1 (PM2_supporting). In summary, this variant is of uncertain significance and lacks sufficient evidence to be classified as pathogenic or benign for Glanzmann thrombasthenia. GT-specific criteria applied: PM2_supporting, PM3_supporting, PP4_moderate.

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