ClinVar Miner

Submissions for variant NM_000110.4(DPYD):c.220C>T (p.Arg74Ter)

gnomAD frequency: 0.00006  dbSNP: rs189768576
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411323 SCV000486151 likely pathogenic Dihydropyrimidine dehydrogenase deficiency 2016-04-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000411323 SCV001162933 pathogenic Dihydropyrimidine dehydrogenase deficiency 2024-03-12 criteria provided, single submitter clinical testing
New York Genome Center RCV000411323 SCV001622847 likely pathogenic Dihydropyrimidine dehydrogenase deficiency 2020-06-12 criteria provided, single submitter clinical testing
GeneDx RCV002298579 SCV002588216 uncertain significance not provided 2022-04-20 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31589614)
PreventionGenetics, part of Exact Sciences RCV004755907 SCV005363038 pathogenic DPYD-related disorder 2024-05-27 no assertion criteria provided clinical testing The DPYD c.220C>T variant is predicted to result in premature protein termination (p.Arg74*). To our knowledge, this variant has not been previously associated with DYPD-related disease. This variant is reported in 0.16% of alleles in individuals of East Asian descent in gnomAD. Nonsense variants in DPYD are expected to be pathogenic. This variant is interpreted as pathogenic.

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