Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Johns Hopkins Genomics, |
RCV001255171 | SCV001431523 | pathogenic | Childhood onset GLUT1 deficiency syndrome 2 | 2020-08-27 | criteria provided, single submitter | clinical testing | This SLC2A1 variant is absent in a large population dataset and has not been reported in ClinVar nor the literature to our knowledge. This frameshift variant results in a premature stop codon, likely leading to nonsense-mediated decay and lack of protein production. We consider c.293delT to be pathogenic. |