ClinVar Miner

Submissions for variant NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) (rs1801158)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000249334 SCV000302300 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000249334 SCV000331345 benign not specified 2016-03-29 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000086477 SCV000574775 uncertain significance not provided 2017-01-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000603277 SCV000743428 benign Dihydropyrimidine dehydrogenase deficiency 2015-08-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000086477 SCV000841878 likely benign not provided 2017-09-08 criteria provided, single submitter clinical testing
GeneDx RCV000086477 SCV000977480 likely benign not provided 2018-03-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000603277 SCV001256862 uncertain significance Dihydropyrimidine dehydrogenase deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Diasio Lab, Mayo Clinic RCV000086477 SCV000118643 not provided not provided no assertion provided not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000603277 SCV000734053 benign Dihydropyrimidine dehydrogenase deficiency no assertion criteria provided clinical testing

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