ClinVar Miner

Submissions for variant NM_000212.3(ITGB3):c.877C>T (p.Gln293Ter)

dbSNP: rs1193381168
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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 RCV001225285 SCV001397562 likely pathogenic Glanzmann thrombasthenia 2023-05-16 reviewed by expert panel curation The NM_000212.3(ITGB3):c.877C>T variant results in premature termination of translation at Gln293 in exon 6/15. The resulting transcript is predicted to undergo NMD (PVS1). The variant is absent from gnomAD v2.1.1 and v3 (PM2_supporting threshold of <0.0001). The variant is reported in one compound heterozygous individual who does not meet criteria for PP4 (PMID: 30138987). In summary, this variant meets the criteria to be classified as likely pathogenic for autosomal recessive Glanzmann Thrombasthenia based on the ACMG/AMP criteria applied, as specified by the ClinGen PD VCEP: PM2_Supporting, PVS1 (PD VCEP specifications version 2.1).

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