ClinVar Miner

Submissions for variant NM_000110.4(DPYD):c.2528T>C (p.Ile843Thr)

gnomAD frequency: 0.00001  dbSNP: rs571114616
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521908 SCV000620099 uncertain significance not provided 2017-08-17 criteria provided, single submitter clinical testing The I843T variant in the DPYD gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The I843T variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The I843T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Isoleucine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret I843T as a variant of uncertain significance.
Fulgent Genetics, Fulgent Genetics RCV002481719 SCV002793378 uncertain significance Dihydropyrimidine dehydrogenase deficiency 2021-12-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002481719 SCV004049523 uncertain significance Dihydropyrimidine dehydrogenase deficiency 2023-04-11 criteria provided, single submitter clinical testing

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