ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2279_2280del (p.Pro760fs)

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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 RCV004014778 SCV004825611 likely pathogenic Wilson disease 2023-05-15 criteria provided, single submitter clinical testing This variant is predicted to result in loss of protein function through nonsense-mediated 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, this variant has not been reported in association with human disease.

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