ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.352-1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Suzhou Beikang Medical Laboratory RCV004776492 SCV005387804 likely pathogenic UDPglucose-4-epimerase deficiency 2024-10-31 no assertion criteria provided 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.This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with Galactose epimerase deficiency.This sequence change affects an acceptor splice site in intron 5 of the GALE 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 GALE are known to be pathogenic (PMID: 16301867). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site.

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