ClinVar Miner

Submissions for variant NM_001029896.2(WDR45):c.500G>A (p.Gly167Glu)

dbSNP: rs1131691592
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494456 SCV000582442 pathogenic not provided 2017-09-01 criteria provided, single submitter clinical testing The G168E variant in the WDR45 gene has not been published previously as a pathogenic variant nor as a benign variant, to our knowledge. It has been reported as a de novo variant with confirmed parentage in multiple patients with neurodevelopmental disorders who were previously tested at GeneDx. The G168E variant was not observed in large population cohorts (Lek et al., 2016; McVean et al., 2012; Exome Variant Server). The G168E variant is a non-conservative amino acid substitution that occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We consider G168E a pathogenic variant.
Invitae RCV000554794 SCV000652528 likely pathogenic Neurodegeneration with brain iron accumulation 5 2021-08-28 criteria provided, single submitter clinical testing

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