Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
St. |
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. |