ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter) (rs1598377051)

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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 RCV000851591 SCV001397538 pathogenic Glanzmann thrombasthenia 2020-06-15 reviewed by expert panel curation The nonsense variant, NM_000419.4:c.2344C>T (p.Arg782Ter) is expected to cause NMD of the resulting transcript. The variant is absent from population databases. The variant is reported in one compound heterozygous individual with the frameshift variant, Leu973AlafsTer63 (PMID: 28888044) and two homozygous individuals in (PMID: 31064749). In summary, based on the evidence available at this time, the variant is classified as pathogenic. GT-specific criteria applied: PVS1, PP4_Moderate, PM2_supporting, PM3_supporting.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851591 SCV000899324 likely pathogenic Glanzmann thrombasthenia 2019-02-01 criteria provided, single submitter research

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