ClinVar Miner

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

dbSNP: rs1598377051
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Total submissions: 3
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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 2020-09-06 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000851591 SCV004298232 pathogenic Glanzmann thrombasthenia 2023-04-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 626927). This premature translational stop signal has been observed in individual(s) with clinical features of Glanzmann thrombasthenia (PMID: 28888044, 31064749). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg782*) in the ITGA2B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ITGA2B are known to be pathogenic (PMID: 21917754).

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