Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000490904 | SCV000946669 | pathogenic | Fanconi-Bickel syndrome | 2018-08-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu209*) in the SLC2A2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC2A2-related disease. ClinVar contains an entry for this variant (Variation ID: 427888). Loss-of-function variants in SLC2A2 are known to be pathogenic (PMID: 11810292). For these reasons, this variant has been classified as Pathogenic. |
Institute of Human Genetics, |
RCV000490904 | SCV000579221 | pathogenic | Fanconi-Bickel syndrome | no assertion criteria provided | clinical testing |