Submissions for variant NM_000110.4(DPYD):c.496A>G (p.Met166Val)

gnomAD frequency: 0.08071  dbSNP: rs2297595

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PharmGKB	RCV001787915	SCV002031277	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	RCV001787916	SCV002031278	drug response	fluorouracil response - Toxicity	2021-03-29	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.
PreventionGenetics, part of Exact Sciences	RCV003891588	SCV000302305	benign	DPYD-related disorder	2023-12-14	criteria provided, single submitter	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).
Eurofins Ntd Llc (ga)	RCV000245015	SCV000345079	benign	not specified	2016-08-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000276917	SCV000359607	likely benign	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics	RCV000086499	SCV000841883	benign	not provided	2017-04-20	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000276917	SCV004049892	uncertain significance	Dihydropyrimidine dehydrogenase deficiency	2023-04-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000086499	SCV004124101	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	DPYD: BS1, BS2
Diasio Lab, Mayo Clinic	RCV000086499	SCV000118665	not provided	not provided		no assertion provided	not provided