ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2671C>T (p.Gln891Ter)

dbSNP: rs200846140
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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 RCV001225291 SCV001397569 pathogenic Glanzmann thrombasthenia 2020-09-06 reviewed by expert panel curation The nonsense variant c.2671C>T (p.Gln891Ter) has been reported in at least 3 homozygous and 2 compound heterozygous probands (PMID: 29675921), with a phenotype highly specific to Glanzmann thrombasthenia (GT) and is reported in gnomAD with a prevalence of 1/18226. This nonsense variant occurs in exon 26 out of 30 and is predicted to result in NMD. In summary, this variant meets criteria to be classified as Pathogenic for GT. GT Expert Panel specific codes applied include: PVS1, PM2_supporting, PM3, PP4_strong.
Labcorp Genetics (formerly Invitae), Labcorp RCV001225291 SCV004298230 pathogenic Glanzmann thrombasthenia 2023-06-23 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 953054). For these reasons, this variant has been classified as Pathogenic. This variant is also known as Q860X. This sequence change creates a premature translational stop signal (p.Gln891*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive Glanzmann thrombasthenia (PMID: 19175981, 33928629).

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