ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.887G>A (p.Trp296Ter)

dbSNP: rs1249398093
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001552272 SCV001772930 likely pathogenic not provided 2019-11-21 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001283814 SCV003352186 pathogenic Hereditary fructosuria 2023-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp296*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ALDOB-related conditions. ClinVar contains an entry for this variant (Variation ID: 993008). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001283814 SCV001469218 likely pathogenic Hereditary fructosuria 2020-05-06 no assertion criteria provided clinical testing

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