ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1440-13_1440-1del

dbSNP: rs2048585829
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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 RCV001225233 SCV001397483 pathogenic Glanzmann thrombasthenia 2020-09-08 reviewed by expert panel curation The NM_000419.4:c.1440-13_1440-1del variant that deletes 13 bp in intron 14 including the splice acceptor is predicted to use an alternative crytpic splice acceptor site, resulting in a 2-bp deletion of the mRNA inducing a frameshift responsible for a premature stop codon after 105 amino acids. The resulting transcript is predicted to undergo NMD (PMID: 25728920). It is absent in population databases. At least 10 individuals have been reported with the variant in the heterozygous or compound heterozygous state (PMID: 25728920, 22102273, 22394243, 20020534) and the variant was found to segregate in at least two additional family members (PMID: 22394243). In summary, based on the evidence available at this time, the c.1440-13_1440-1del variant is classified "Pathogenic". GT-specific criteria applied: PVS1, PM2_Supporting, PM3_Strong, PP1_Moderate, PP4_Strong.
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002222678 SCV002500891 uncertain significance Glanzmann thrombasthenia 1 criteria provided, single submitter clinical testing

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