ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1544+1G>A

dbSNP: rs879255509
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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 RCV000003029 SCV001478495 pathogenic Glanzmann thrombasthenia 2021-01-19 reviewed by expert panel curation NM_000419.5(ITGA2B):c.1544+1G>A is a canonical splice donor variant on intron 15 of ITGA2B, that was demonstrated to result in a frameshift leading to a premature stop codon due to abnormal splicing occuring in a cryptic splice site located 8 bp upstream from the mutation (PMIDs: 7620188, 21487445). This variant has been reported several times in French Manouche families with a GT phenotype. It has been reported to occur in a homozygous state in at least 16 individuals (PMIDs: 25728920, 22250950). It is absent from large population cohorts including gnomAD. This variant satisfies GT specific criteria for PVS1, PM3, PP4_Strong and PM2_Supporting and is therefore classified as Pathogenic for GT.
OMIM RCV001580163 SCV000023187 pathogenic Glanzmann thrombasthenia 1 2011-09-01 no assertion criteria provided literature only

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