Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671386 | SCV000796357 | pathogenic | Hereditary fructosuria | 2017-12-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000671386 | SCV002236212 | pathogenic | Hereditary fructosuria | 2022-12-08 | 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: 555545). This premature translational stop signal has been observed in individual(s) with hereditary fructose intolerance (PMID: 16406649). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr174*) 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, |
RCV000671386 | SCV001573840 | likely pathogenic | Hereditary fructosuria | 2021-03-18 | no assertion criteria provided | literature only |