ClinVar Miner

Submissions for variant NM_000035.4(ALDOB):c.324+2T>A

dbSNP: rs1057516379
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409519 SCV000485557 likely pathogenic Hereditary fructosuria 2016-01-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000409519 SCV001163210 pathogenic Hereditary fructosuria criteria provided, single submitter clinical testing
Invitae RCV000409519 SCV002122024 pathogenic Hereditary fructosuria 2023-08-16 criteria provided, single submitter clinical testing Disruption of this splice site has been observed in individuals with fructose intolerance (PMID: 25595217). ClinVar contains an entry for this variant (Variation ID: 370293). 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. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 3 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).

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