Submissions for variant NM_001385.3(DPYS):c.19C>G (p.Leu7Val)

gnomAD frequency: 0.01314  dbSNP: rs57732538

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000264226	SCV000471301	likely benign	Dihydropyrimidinase 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000086532	SCV001093294	likely benign	not provided	2024-01-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000086532	SCV005224030	likely benign	not provided		criteria provided, single submitter	not provided
Diasio Lab, Mayo Clinic	RCV000086532	SCV000118736	not provided	not provided		no assertion provided	not provided
PreventionGenetics, part of Exact Sciences	RCV003905084	SCV004725618	likely benign	DPYS-related disorder	2019-11-25	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).