Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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 |