Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
St. |
RCV002254869 | SCV002526075 | uncertain significance | Exostoses, multiple, type 2 | 2022-05-23 | criteria provided, single submitter | clinical testing | The EXT2 c.53A>G (p.Gln18Arg) missense change is absent in gnomAD v2.1.1 (PM2_supporting; https://gnomad.broadinstitute.org/). It is predicted to have a benign effect on protein function (BP4), but to our knowledge this prediction has not been confirmed by functional assays. To our knowledge, this variant has not been reported in individuals with hereditary multiple exostoses. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PM2_supporting, BP4. |