ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.91del (p.Ala31fs)

dbSNP: rs2048678902
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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 RCV001225271 SCV001397537 pathogenic Glanzmann thrombasthenia 2020-09-06 reviewed by expert panel curation The 1-bp deletion vairant, NM_000419.4:c.91del, causes a frameshift, Ala31ProfsTer2 and a premature termination codon at position 33. The resulting transcript is predicted to undergo NMD. The variant is absent from gnomAD. The variant is reported in two siblings in the compound heterozygous state with another frameshift variant, Leu973AlafsTer63 (PMID: 25728920). In summary, based on the evidence available at this time, the variant is classified as pathogenic. GT-specific criteria applied: PVS1, PM2_Supporting, PP1, PP4_Strong.

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