ClinVar Miner

Submissions for variant NM_000110.4(DPYD):c.1128+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 RCV004776498 SCV005387815 likely pathogenic Dihydropyrimidine dehydrogenase deficiency 2024-10-31 no assertion criteria provided clinical testing This sequence change affects a donor splice site in intron 10 of the DPYD 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, and loss-of-function variants in DPYD are known to be pathogenic (PMID: 38528593). This variant is not present in population databases (gnomAD no frequency). 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 Likely pathogenic.

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