ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1075_1078del (p.Val359fs)

dbSNP: rs2048615633
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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 RCV001225232 SCV001397482 pathogenic Glanzmann thrombasthenia 2020-09-06 reviewed by expert panel curation The NM_000419.4:c.1075_1078del variant causes a frameshift and early termination of transcription, with predicted NMD of the mRNA. It is absent from population databases and is reported in one individual in the literature with a mild phenotype (PMID: 19172520). Based on the available evidence at this time, the c.1075_1078del variant is classified as pathogenic. GT-specific criteria met: PVS1, PM2_supporting, PP4_moderate.

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