ClinVar Miner

Submissions for variant NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) (rs797046101)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000477948 SCV000249437 likely pathogenic Neurodegeneration with brain iron accumulation 5 2015-07-07 criteria provided, single submitter clinical testing
GeneDx RCV000413483 SCV000491043 pathogenic not provided 2018-04-12 criteria provided, single submitter clinical testing The R134X variant in the WDR45 gene has been reported previously in association with neurodegeneration with brain iron accumulation (Haack et al., 2012; Nakashima et al., 2016; Nishioka et al., 2015; Xixis et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R134X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R134X as a pathogenic variant.
Baylor Genetics RCV000679876 SCV000807258 pathogenic Cerebral-cerebellar-coloboma syndrome, X-linked 2017-09-01 criteria provided, single submitter clinical testing This variant was previously reported as pathogenic and was found once in our laboratory de novo in a 3-year-old female with infantile spasms, global developmental delay, and normal brain MRI.
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000477948 SCV001164217 pathogenic Neurodegeneration with brain iron accumulation 5 2018-03-06 criteria provided, single submitter clinical testing
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477948 SCV000536742 pathogenic Neurodegeneration with brain iron accumulation 5 2016-02-09 no assertion criteria provided research

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