Submissions for variant NM_000110.4(DPYD):c.1627A>G (p.Ile543Val)

gnomAD frequency: 0.18679  dbSNP: rs1801159

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PharmGKB	RCV001787907	SCV002031270	drug response	capecitabine response - Toxicity	2021-03-24	reviewed by expert panel	curation	PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance.
PharmGKB	RCV001787908	SCV002031271	drug response	fluorouracil response - Toxicity	2021-03-24	reviewed by expert panel	curation	PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance.
Eurofins Ntd Llc (ga)	RCV000174446	SCV000225752	benign	not specified	2015-02-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000389596	SCV000359592	benign	Dihydropyrimidine dehydrogenase deficiency	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000389596	SCV000743427	benign	Dihydropyrimidine dehydrogenase deficiency	2014-10-09	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000086475	SCV000841879	benign	not provided	2017-04-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000389596	SCV004049540	benign	Dihydropyrimidine dehydrogenase deficiency	2023-04-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000086475	SCV004124095	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	DPYD: BP4, BS1, BS2
Diasio Lab, Mayo Clinic	RCV000086475	SCV000118641	not provided	not provided		no assertion provided	not provided
PreventionGenetics, part of Exact Sciences	RCV003891586	SCV000302301	benign	DPYD-related disorder	2024-03-05	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000389596	SCV000734052	benign	Dihydropyrimidine dehydrogenase deficiency		no assertion criteria provided	clinical testing