Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000411600 | SCV000485579 | likely pathogenic | Dihydropyrimidine dehydrogenase deficiency | 2016-01-08 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000411600 | SCV002600548 | likely pathogenic | Dihydropyrimidine dehydrogenase deficiency | 2022-10-18 | criteria provided, single submitter | clinical testing | Variant summary: DPYD c.1109_1110delTA (p.Ile370LysfsX5) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 4e-06 in 251364 control chromosomes (gnomAD). c.1109_1110delTA has been reported in the literature in at least one individual affected with 5-fluorouracil toxicity (Gross_2008). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One ClinVar submitter has assessed the variant since 2014: the variant was classified as likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Genome- |
RCV000411600 | SCV004049555 | likely pathogenic | Dihydropyrimidine dehydrogenase deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000411600 | SCV004194143 | pathogenic | Dihydropyrimidine dehydrogenase deficiency | 2022-07-01 | criteria provided, single submitter | clinical testing |