Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001376725 | SCV002247212 | pathogenic | Hereditary fructosuria | 2023-05-18 | 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: 1065871). This variant is also known as p.Val253fsX24. This premature translational stop signal has been observed in individual(s) with clinical features of hereditary fructose intolerance (PMID: 22375183). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr255Asnfs*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). |
ATS em Genética Clínica, |
RCV001376725 | SCV001573876 | likely pathogenic | Hereditary fructosuria | 2021-03-18 | no assertion criteria provided | literature only |