ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.324+1G>A (rs764826805)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000202622 SCV000486733 pathogenic Hereditary fructosuria 2016-08-01 criteria provided, single submitter clinical testing
Invitae RCV000202622 SCV001199384 pathogenic Hereditary fructosuria 2019-08-17 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 3 of the ALDOB gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs764826805, ExAC 0.006%). This variant has been observed in several individuals and families affected with fructose intolerance (PMID: 25595217). ClinVar contains an entry for this variant (Variation ID: 218380). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ALDOB are known to be pathogenic (PMID: 18541450). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000202622 SCV000257569 pathogenic Hereditary fructosuria 2015-10-07 no assertion criteria provided literature only
ATS em Genética Clínica,Universidade Federal do Rio Grande do Sul RCV000202622 SCV001573885 likely pathogenic Hereditary fructosuria 2021-03-18 no assertion criteria provided literature only

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