ClinVar Miner

Submissions for variant NM_001029896.2(WDR45):c.870C>T (p.Tyr290=)

gnomAD frequency: 0.00002  dbSNP: rs782557596
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768137 SCV000899092 uncertain significance Neurodegeneration with brain iron accumulation 5 2021-03-30 criteria provided, single submitter clinical testing WDR45 NM_007075.3 exon 11 p.Tyr291= (c.873C>T): This variant has not been reported in the literature but is present in 3/12865 East Asian alleles, including 2 hemizygotes in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs782557596). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000768137 SCV001074272 benign Neurodegeneration with brain iron accumulation 5 2022-06-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002370025 SCV002687745 likely benign Inborn genetic diseases 2017-12-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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