ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.614+1G>T

dbSNP: rs2065096678
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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 RCV001580218 SCV001809851 likely pathogenic Glanzmann thrombasthenia 2024-09-05 reviewed by expert panel curation The c.614+1G>T variant on ITGB3 gene is a canonical splice donor variant that has been reported previously in the context of Glanzmann Thrombasthenia (PMID: 25728920). It is predicted to cause a disruption of the canonical donor splice site in intron 4, this is expected to cause a frameshift with premature stop at codon 122 (exon 5 of 15), therefore NMD would be expected. (PVS1). It is absent from all major population cohorts in gnomADv4.1 (PM2_supporting). This variant has been reported in homozygosity in two symptomatic siblings who meet diagnostic criteria for GT phenotype (PMID: 25728920). However, the siblings are homozygous for both c.614+1G>T and Arg228His and while this splice variant is Likely Pathogenic an impact of the missense variant can not be excluded so this case has not been considered in the classification of this variant. This variant meets GT-specific criteria for PVS1 and PM2_supporting and is therefore classified as Likely Pathogenic.

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