ClinVar Miner

Submissions for variant NM_001361.5(DHODH):c.454G>A (p.Gly152Arg) (rs267606766)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000018294 SCV000915732 uncertain significance Miller syndrome 2018-11-19 criteria provided, single submitter clinical testing The DHODH c.454G>A (p.Gly152Arg) variant is a missense variant that has been identified in a compound heterozygous state in two siblings with Miller syndrome, another name for postaxial acrofacial dysostosis (Ng et al. 2010; Roach et al. 2010). This variant was not identified in 237 control individuals but is reported at a frequency of 0.000180 in the European (non-Finnish) population of the Exome Aggregation Consortium. Functional studies performed by Fang et al. (2012) suggested the p.Gly152Arg variant affects protein expression or turnover. In addition, Rainger et al. (2012) determined that the variant enzyme shows reduced activity compared to wild type, although a larger effect was observed using a complementation assay than an in vitro assay of enzyme activity. The evidence for this variant is limited. The p.Gly152Arg variant is thus classified as of a variant of unknown significance but suspicious for pathogenicity for postaxial acrofacial dysostosis. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
OMIM RCV000018294 SCV000038573 pathogenic Miller syndrome 2010-01-01 no assertion criteria provided literature only

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