ClinVar Miner

Submissions for variant NM_000110.4(DPYD):c.661G>T (p.Glu221Ter)

gnomAD frequency: 0.00001  dbSNP: rs146170505
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410667 SCV000486030 likely pathogenic Dihydropyrimidine dehydrogenase deficiency 2016-04-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000410667 SCV000894212 pathogenic Dihydropyrimidine dehydrogenase deficiency 2018-10-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000410667 SCV000917300 likely pathogenic Dihydropyrimidine dehydrogenase deficiency 2023-03-06 criteria provided, single submitter clinical testing Variant summary: DPYD c.661G>T (p.Glu221X) 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 3.2e-05 in 250946 control chromosomes (gnomAD). To our knowledge, c.661G>T has not been reported in the literature in individuals affected with Dihydropyrimidine Dehydrogenase Deficiency and no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Genome-Nilou Lab RCV000410667 SCV004049561 likely pathogenic Dihydropyrimidine dehydrogenase deficiency 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000410667 SCV004194080 pathogenic Dihydropyrimidine dehydrogenase deficiency 2024-02-07 criteria provided, single submitter clinical testing

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