ClinVar Miner

Submissions for variant NM_001029896.2(WDR45):c.865C>T (p.Gln289Ter)

dbSNP: rs2065029414
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253570 SCV001429359 pathogenic Neurodegeneration with brain iron accumulation 5 2019-09-24 criteria provided, single submitter clinical testing
3billion, Medical Genetics RCV001253570 SCV003841718 pathogenic Neurodegeneration with brain iron accumulation 5 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. This variant was predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with WDR45 related disorder (ClinVar ID: VCV000976312 / PMID: 25263061). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
CeGaT Center for Human Genetics Tuebingen RCV004809547 SCV005431682 pathogenic not provided 2024-11-01 criteria provided, single submitter clinical testing WDR45: PVS1, PM6:Strong, PM2, PS4:Moderate

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