ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1618del (p.Gln540fs)

dbSNP: rs2048581747
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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 RCV001290493 SCV001478531 pathogenic Glanzmann thrombasthenia 2020-08-12 reviewed by expert panel curation The NM_000419.5:c.1618del variant in ITGA2B causes a frameshift and premature termination, Gln540SerfsTer25, with nonsense-mediated mRNA decay predicted. The variant is absent in population databases including gnomAD v2.1.1 and v3. The evidence is reported in a homozygous GT patient. Functional evidence from transfection studies in BHK cells show that the variant results in absent integrin expression. In summary, the variant meets criteria to be classified as pathogenic. GT-specific criteria applied: PVS1, PS3, PM2_Supporting, PM3_Supporting.

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