ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3234del (p.Cys1079fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004807772 SCV005429608 likely pathogenic Wilson disease 2024-10-01 criteria provided, single submitter clinical testing This variant is predicted to result in loss of protein function through nonsense-mediated decay or protein truncation. Loss of function is an established mechanism of disease. This variant is absent from large population databases, including the Genome Aggregation Database (http://gnomad.broadinstitute.org/). To our knowledge, it has not been published in association with human disease to date.

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