ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) (rs370793608)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169110 SCV000220310 likely pathogenic Hereditary fructosuria 2014-05-12 criteria provided, single submitter literature only
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723842 SCV000231461 pathogenic not provided 2014-06-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000169110 SCV001361106 pathogenic Hereditary fructosuria 2019-09-09 criteria provided, single submitter clinical testing Variant summary: ALDOB c.612T>A (p.Tyr204X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251356 control chromosomes (gnomAD). c.612T>A has been reported in the literature in multiple individuals affected with Hereditary Fructose Intolerance (e.g. Ali_1993, Esposito_2010). These data indicate that the variant is very likely to be associated with disease. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.
Invitae RCV000169110 SCV001405976 pathogenic Hereditary fructosuria 2019-11-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr204*) in the ALDOB 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 been observed in individual(s) with hereditary fructose intolerance (PMID: 8438046). It has also been observed to segregate with disease in related individuals. This variant is also known as Y203X in the literature. ClinVar contains an entry for this variant (Variation ID: 188782). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in ALDOB are known to be pathogenic (PMID: 18541450). For these reasons, this variant has been classified as Pathogenic.
ATS em Genética Clínica,Universidade Federal do Rio Grande do Sul RCV000169110 SCV001573844 likely pathogenic Hereditary fructosuria 2021-03-18 no assertion criteria provided literature only

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