ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1750C>T (p.Arg584Ter)

dbSNP: rs137852906
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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 RCV000003026 SCV001397558 pathogenic Glanzmann thrombasthenia 2020-09-04 reviewed by expert panel curation The NM_000419.4:c.1750C>T that leads to Arg584Ter is a nonsense variant that has been reported in several GT patients meeting phenotype criteria in the homozygous as well as compound heterozygous states (PMIDs: 25728920, 28888044, 22250950, 9215749, 29675921). It is reported at a frequency >0.0001 in the combined gnomAD v3 and v2.1.1 datasets. This nonsense variant occurs in exon 17 out of 30 and is predicted to result in NMD. In summary, this variant meets criteria to be classified as pathogenic. GT-specific codes applied: PVS1, PP4_strong.
Labcorp Genetics (formerly Invitae), Labcorp RCV000003026 SCV001585574 pathogenic Glanzmann thrombasthenia 2023-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg584*) 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). This variant is present in population databases (rs137852906, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with autosomal recessive Glanzmann’s thrombasthenia (PMID: 1317725, 22190468, 30138987). ClinVar contains an entry for this variant (Variation ID: 2892). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV001580165 SCV000023184 pathogenic Glanzmann thrombasthenia 1 1992-06-15 no assertion criteria provided literature only

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