Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000527547 | SCV000652374 | pathogenic | Fanconi-Bickel syndrome | 2021-01-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SLC2A2 are known to be pathogenic (PMID: 11810292). This variant has not been reported in the literature in individuals with SLC2A2-related disease. ClinVar contains an entry for this variant (Variation ID: 473039). This variant is present in population databases (rs769888108, ExAC 0.009%). This sequence change creates a premature translational stop signal (p.Pro80Leufs*13) in the SLC2A2 gene. It is expected to result in an absent or disrupted protein product. |