ClinVar Miner

Submissions for variant NM_001029896.2(WDR45):c.827+1G>T

dbSNP: rs1557083958
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990817 SCV001141862 pathogenic Neurodegeneration with brain iron accumulation 5 2019-05-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000990817 SCV003814802 likely pathogenic Neurodegeneration with brain iron accumulation 5 2022-07-29 criteria provided, single submitter clinical testing
3billion RCV000990817 SCV003841962 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 alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. The variant has been reported to be associated with WDR45 related disorder (ClinVar ID: VCV000803997). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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