Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001215679 | SCV001387435 | pathogenic | Hereditary fructosuria | 2021-12-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 945121). This variant has not been reported in the literature in individuals affected with ALDOB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu15Serfs*23) in the ALDOB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ALDOB are known to be pathogenic (PMID: 18541450). |
Baylor Genetics | RCV001215679 | SCV004196615 | pathogenic | Hereditary fructosuria | 2023-09-04 | criteria provided, single submitter | clinical testing |