Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV000209935 | SCV000265508 | likely pathogenic | Neurodegeneration with brain iron accumulation 5 | 2014-04-10 | criteria provided, single submitter | research | |
Illumina Laboratory Services, |
RCV000209935 | SCV004014670 | pathogenic | Neurodegeneration with brain iron accumulation 5 | 2023-01-26 | criteria provided, single submitter | clinical testing | The WDR45 c.976+1G>A variant results in the substitution of a guanine within the consensus splice donor site with an adenine, which may result in splicing defects. This variant has been reported in a de novo state in an individual with developmental delay, intellectual disability, infantile spasms, epilepsy, and facial dysmorphism (PMID: 28554332). A different nucleotide change at the same position, c.976+1G>C, has also been reported in a de novo state in two individuals with features consistent with neurodegeneration with brain iron accumulation (PMID: 33037762; PMID: 31665836). The c.976+1G>A variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database and was identified in a de novo state. Based on the available evidence, the c.976+1G>A variant is classified as pathogenic for neurodegeneration with brain iron accumulation. |