ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2870C>T (p.Ser957Leu) (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 likely pathogenic Glanzmann thrombasthenia 2020-06-15 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. Flow cytometric studies of the mutant protein expressed in COS-7 cells showed <5% expression of the GPIIb/IIIa complex on the cell surface. In summary, this variant meets criteria to be classified as likely pathogenic for GT. GT-specific criteria applied: PS3, PM2_Supporting, and PM3_Supporting.
OMIM RCV000003036 SCV000023194 pathogenic Glanzmann thrombasthenia 2010-03-01 no assertion criteria provided literature only

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