ClinVar Miner

Submissions for variant NM_000419.5(ITGA2B):c.1619_1660del (p.Gln540_Leu553del)

dbSNP: rs2143459210
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002251161 SCV002521626 uncertain significance Glanzmann thrombasthenia 1 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Inframe deletion located in a nonrepeat region: predicted to change the length of the protein and disrupt normal protein function. The variant is shared with affected family member (3billion dataset). Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline.

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