ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1738del (p.His580fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002307304 SCV002604775 likely pathogenic Wilson disease 2021-12-16 criteria provided, single submitter clinical testing NM_000053.3(ATP7B):c.1738delC(H580Tfs*3) is expected to be pathogenic in the context of Wilson disease. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ATP7B, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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