ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.800-2A>C

gnomAD frequency: 0.00002  dbSNP: rs199965465
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498914 SCV000589886 likely pathogenic not provided 2016-07-07 criteria provided, single submitter clinical testing The c.800-2 A>C splice site variant in the ALDOB gene destroys the canonical splice acceptor site in intron 7. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Although this variant has not been previously reported to our knowledge, it is likely to be a pathogenic variant.
Counsyl RCV000667124 SCV000791524 likely pathogenic Hereditary fructosuria 2017-05-12 criteria provided, single submitter clinical testing
Invitae RCV000667124 SCV002285041 likely pathogenic Hereditary fructosuria 2022-03-28 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 432193). This variant has not been reported in the literature in individuals affected with ALDOB-related conditions. This variant is present in population databases (rs199965465, gnomAD 0.004%). This sequence change affects an acceptor splice site in intron 7 of the ALDOB gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ALDOB are known to be pathogenic (PMID: 18541450).
Baylor Genetics RCV000667124 SCV004196115 likely pathogenic Hereditary fructosuria 2023-10-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000667124 SCV002078712 likely pathogenic Hereditary fructosuria 2020-07-19 no assertion criteria provided clinical testing

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