ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1913dup (p.Cys639fs)

gnomAD frequency: 0.00001  dbSNP: rs75028796
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen RCV001290500 SCV001478540 pathogenic Glanzmann thrombasthenia 2020-12-07 reviewed by expert panel curation The ITGA2B frameshift variant NM_000419.5:c.1913dup (p.Cys639MetfsTer22) introduces a premature termination codon and the resulting mRNA product is predicted to undergo nonsense mediated decay, leading to loss of normal protein function. This variant has been observed in homozygosity in one individual (Patient LF, PMID: 12083483) and heterozygosity in two individuals (CabGT-2, PMID: 20020534 and Patient ER, PMID: 12083483), at least one of which was reported to have a phenotype specific for Glanzmann's thrombasthenia (GT). Furthermore, this variant is extremely rare in population databases. In summary, this variant meets criteria to be classified as pathogenic for GT. GT-specific criteria applied: PVS1, PP4_strong, PM2_supporting, PM3_supporting.

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