ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1618C>T (p.Gln540Ter)

dbSNP: rs1344768030
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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 RCV001225266 SCV001397531 pathogenic Glanzmann thrombasthenia 2020-09-06 reviewed by expert panel curation The NM_000419.5:c.1618C>T variant results in premature termination of translation at Gln540 in exon 17/30. The resulting transcript is predicted to undergo NMD. The variant is absent from gnomAD v2.1.1 and v3 (PM2 threshold of <0.0001). The variant is reported in one compound heterozygous GT patient along with the splice site variant, c.1440-13_1440-1del (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, PM3_Supporting, PP4_Strong.

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