ClinVar Miner

Submissions for variant NM_001361.5(DHODH):c.1036C>T (p.Arg346Trp)

gnomAD frequency: 0.00016  dbSNP: rs201947120
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002225267 SCV002504390 likely pathogenic not provided 2022-03-06 criteria provided, single submitter clinical testing Published functional studies demonstrate reduced enzymatic activity and deficient protein stability (Fang et al., 2012; Rainger et al., 2012); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23216091, 22692683, 31589614, 33262786, 21346561, 19684571, 27814609, 19915526, 22967083)
Baylor Genetics RCV000018291 SCV003836135 likely pathogenic Miller syndrome 2022-03-23 criteria provided, single submitter clinical testing
OMIM RCV000018291 SCV000038570 pathogenic Miller syndrome 2010-01-01 no assertion criteria provided literature only

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