ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.527C>T (p.Pro176Leu)

dbSNP: rs148327798
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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 RCV001225250 SCV001397502 likely pathogenic Glanzmann thrombasthenia 2023-10-17 reviewed by expert panel curation The NM_000419.4:c.527C>T (p.Pro176Leu) variant has been reported (PMID: 1060770) in at least one compound heterozygous (with pathogenic variant c.1545-1del) proband with a phenotype highly specific to GT (PP4_Moderate, PM3_supporting). It is absent from gnomADv2.1.1 )PM2_supporting0 and multiple lines of computational evidence support a deleterious effect (REVEL score of 0.855; PP3). The pathogenic variant Pro176Ala occurs at the same amino acid residue (PM5). In summary, this variant meets criteria to be classified as likely pathogenic for GT. GT-specific criteria applied: PM2_Supporting, PM3_Supporting, PM5, PP3, and PP4_Moderate.

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