ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3707del (p.Ile1236fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002309898 SCV002603778 likely pathogenic Wilson disease 2022-02-23 criteria provided, single submitter clinical testing NM_000053.3(ATP7B):c.3707delT(I1236Tfs*94) 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.
Baylor Genetics RCV002309898 SCV004216401 likely pathogenic Wilson disease 2023-06-12 criteria provided, single submitter clinical testing

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