ClinVar Miner

Submissions for variant NM_001029896.2(WDR45):c.973+1G>A

dbSNP: rs869312661
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000209935 SCV000265508 likely pathogenic Neurodegeneration with brain iron accumulation 5 2014-04-10 criteria provided, single submitter research
Illumina Laboratory Services, Illumina 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.

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