Total submissions: 3
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). |