Submissions for variant NM_001361.5(DHODH):c.983C>T (p.Pro328Leu)

gnomAD frequency: 0.00195  dbSNP: rs79673084

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001115643	SCV001273637	benign	Miller syndrome	2017-05-17	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV001593277	SCV001825194	uncertain significance	not provided	2020-11-27	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV001593277	SCV004464017	benign	not provided	2023-12-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003906214	SCV004719569	likely benign	DHODH-related disorder	2019-07-31	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).