Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000754836 | SCV001737099 | pathogenic | ALG3-congenital disorder of glycosylation | criteria provided, single submitter | research | ||
Lab Thiel |
RCV000754836 | SCV000864224 | pathogenic | ALG3-congenital disorder of glycosylation | no assertion criteria provided | research | This variant was found together with c.286G>A in a patient suffering from ALG3-CDG. This glycosylation deficiency was biochemically approved by analysis of dolichol-linked oligosaccharides. The variant is absent from large population studies. In summary, the p.R117P variant meets our criteria to be classified as pathogenic. |