ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2366C>G (p.Ser789Ter)

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Total submissions: 2
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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 RCV004016546 SCV004841084 pathogenic Wilson disease 2023-10-02 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 9 of the ATP7B gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been observed in the homozygous state in one individual affected with autosomal recessive Wilson disease (PMID: 24094725). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of ATP7B function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Baylor Genetics RCV004016546 SCV005053091 pathogenic Wilson disease 2023-12-23 criteria provided, single submitter clinical testing

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