ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.667C>T (p.Gln223Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital RCV001526801 SCV001737425 likely pathogenic Mosaic variegated aneuploidy syndrome 2021-04-22 criteria provided, single submitter clinical testing The BUB1B c.667C>T (p.Gln223Ter) change is a nonsense variant that is predicted to cause premature protein truncation and loss of normal protein function (PVS1). This variant has a maximum frequency of 0.01% in gnomAD v2.1.1 (PM2_supporting; https://gnomad.broadinstitute.org/variant/15-40476000-C-T?dataset=gnomad_r2_1). To our knowledge, this variant has not been reported in individuals with mosaic variegated aneuploidy syndrome. In summary, this variant meets criteria to be classified as likely pathogenic based on the ACMG/AMP criteria: PVS1, PM2.

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