ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.2915dup (p.Leu973fs)

dbSNP: rs781644489
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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 RCV001225282 SCV001397552 pathogenic Glanzmann thrombasthenia 2020-09-04 reviewed by expert panel curation The NM_000419.4:c.2915dup variant in exon 28 causes a frameshift and results in premature termination in exon 30, Leu973AlafsTer63. In-vitro studies show absent integrin expression on the cell surface (PMID: 15748238). At least 5 individuals including a sibling pair with this variant have been reported in the literature. In summary, based on the evidence available at this time, the variant is classified as pathogenic. GT-specific criteria applied: PVS1_Strong, PS3, PM2_supporiting, PM3, PP1, PP4_strong.

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