ClinVar Miner

Submissions for variant NM_000110.3(DPYD):c.661G>T (p.Glu221Ter) (rs146170505)

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Total submissions: 3
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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 2018-01-11 criteria provided, single submitter clinical testing Variant summary: The DPYD c.661G>T (p.Glu221X) variant results in a premature termination codon, predicted to cause a truncated or absent DPYD protein due to nonsense mediated decay, which are commonly known mechanisms for disease. One in silico tool predicts a damaging outcome for this variant. This variant was found in 8/245704 control chromosomes at a frequency of 0.0000326, which does not exceed the estimated maximal expected allele frequency of a pathogenic DPYD variant (0.0025). One clinical diagnostic laboratory classified this variant as likely pathogenic and truncating variants have been associated with disease. Taken together, this variant is classified as likely pathogenic.

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