ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.129del (p.Tyr44fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005239781 SCV005886475 pathogenic Wilson disease 2025-02-13 criteria provided, single submitter clinical testing Variant summary: ATP7B c.129delC (p.Tyr44MetfsX24) 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. The variant was absent in 249450 control chromosomes. To our knowledge, no occurrence of c.129delC in individuals affected with Wilson Disease and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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