ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1073del (p.Cys358fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV001174638 SCV001337847 pathogenic Wilson disease 2020-01-27 criteria provided, single submitter clinical testing Variant summary: ATP7B c.1073delG (p.Cys358SerfsX5) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 249472 control chromosomes. c.1073delG has been reported in the literature in at-least one individual affected with Wilson Disease (Davies_2008) and subsequently cited by others (example, Lin_2010, and Liu_2018). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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