ClinVar Miner

Submissions for variant NM_000110.3(DPYD):c.2275C>T (p.Arg759Ter) (rs759372918)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409049 SCV000486155 likely pathogenic Dihydropyrimidine dehydrogenase deficiency 2016-04-06 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000409049 SCV000894211 pathogenic Dihydropyrimidine dehydrogenase deficiency 2018-10-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000409049 SCV001362329 likely pathogenic Dihydropyrimidine dehydrogenase deficiency 2020-08-06 criteria provided, single submitter clinical testing Variant summary: DPYD c.2275C>T (p.Arg759X) 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. The variant allele was found at a frequency of 2.8e-05 in 250742 control chromosomes. c.2275C>T has been reported in the literature, however with limited phenotypic information (e.g. Hesse_2018). This report does not provide unequivocal conclusions about association of the variant with Dihydropyrimidine Dehydrogenase Deficiency. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Both laboratories classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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