ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2870C>T (p.Ser957Leu)

dbSNP: rs80002943
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV000003036 SCV001397553 uncertain significance Glanzmann thrombasthenia 2023-03-16 reviewed by expert panel curation The c.2870C>T; p.Ser957Leu variant has been reported, in the homozygous state, in at least one proband (PMID: 20020534). It is absent from population databases ExAC and gnomAD. The Ser957Leu mutant complex was expressed in COS-7 cells and, in three replicates, expression of the complex (% positive cells) was assessed by flow cytometry, using antibodies to alpha-IIb, beta-3 or the complex, finding approximately 19% positive cells for the αIIbβ3 complex compared to WT. In summary, this variant meets criteria to be classified as uncertain significance for GT. GT-specific criteria applied: PS3_supporting, PM2_Supporting and PM3_Supporting.
OMIM RCV001580158 SCV000023194 pathogenic Glanzmann thrombasthenia 1 2010-03-01 no assertion criteria provided literature only

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