ClinVar Miner

Submissions for variant NM_001029896.2(WDR45):c.158TGG[1] (p.Val54del) (rs864309661)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Pathology Laboratory, University Of Arkansas for Medical Sciences RCV000203242 SCV000223914 likely pathogenic Neurodegeneration with brain iron accumulation 5 2015-05-20 criteria provided, single submitter clinical testing The c.161_163delTGG change is a previously unreported in-frame deletion that results in a deletion of a valine amino acid at codon 54 (p.Val54del). This residue is conserved across mammals, and the variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project and was absent in the Exome Aggregation Consortium (ExAC) database (http://exac.broadinstitute.org/). One other patient with BPAN has been previously reported to have an in-frame deletion in the WDR45 gene (c.752_754del, p.Ser251del).
Baylor Genetics RCV000679877 SCV000807259 uncertain significance Cerebral-cerebellar-coloboma syndrome, X-linked 2017-09-01 criteria provided, single submitter clinical testing This variant was found once in our laboratory de novo in a 2-year-old male with global delays, dystonia, ataxia, structural brain abnormalities, seizures, sialorrhea, retractible testes.

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