Submissions for variant NM_000110.4(DPYD):c.1349C>T (p.Ala450Val)

dbSNP: rs72975710

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001102324	SCV001258992	uncertain significance	Dihydropyrimidine dehydrogenase deficiency	2017-11-16	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.
Fulgent Genetics, Fulgent Genetics	RCV001102324	SCV002816997	uncertain significance	Dihydropyrimidine dehydrogenase deficiency	2021-08-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001102324	SCV004049549	uncertain significance	Dihydropyrimidine dehydrogenase deficiency	2023-04-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004691377	SCV005186784	uncertain significance	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003973066	SCV004788347	likely benign	DPYD-related disorder	2022-04-28	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).