ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.414C>A (p.Cys138Ter)

dbSNP: rs2048642260
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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 RCV001059843 SCV001809889 likely pathogenic Glanzmann thrombasthenia 2024-04-16 reviewed by expert panel curation The NM_000419.5(ITGA2B):c.414C>A (p.Cys138Ter) nonsense variant occurs in exon 4 of 30 and is predicted to result in NMD. This variant has not been reported in the literature, to our knowledge. This highest MAF in gnomADv4.0.0 is 0.00005652 (1/17694 alleles) in the African/African American population, which is below the threshold of <0.0001 for PM2_supporting. In summary, this variant meets criteria to be classified as likely pathogenic for GT. GT-specific criteria applied: PM2_Supporting and PVS1.
Labcorp Genetics (formerly Invitae), Labcorp RCV001059843 SCV001224491 pathogenic Glanzmann thrombasthenia 2023-01-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys138*) 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 variant has not been reported in the literature in individuals affected with ITGA2B-related conditions. ClinVar contains an entry for this variant (Variation ID: 854735). For these reasons, this variant has been classified as Pathogenic.

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